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1. Increased CD8+CD28- circulating T cells and high blood interferon score characterize the systemic inflammation of amyopathic dermatomyositis

Author: R. Amode, François Chasset, Maxime Battistella, Armand Bensussan, Martine Bagot, Jean-David Bouaziz, Marie Jachiet, Charles Cassius, Claude Bachmeyer, Adèle de Masson, Clémence Lepelletier, Laure Frumholtz, Djaouida Bengoufa, Florence Cordoliani, Mylene Branchtein, Hélène Le Buanec, Jean-Benoît Monfort, Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Catholique de Louvain = Catholic University of Louvain (UCL), Université libre de Bruxelles (ULB), Service d'anatomo-pathologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service de Médecine Interne [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hématologie -Immunologie -Cibles thérapeutiques, Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Dermatologie [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), CHU UCL Namur, Service de pathologie [Saint-Louis], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Le Buanec, Hélène, UCL - SSS/IREC/MONT - Pôle Mont Godinne, and UCL - (MGD) Dermatologie
Subjects: [SDV.IMM] Life Sciences [q-bio]/Immunology, dermatomyositis, CD28- lymphocytes, Dermatology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Cd8 cd28, Systemic inflammation, Peripheral blood mononuclear cell, 03 medical and health sciences, 0302 clinical medicine, Interferon, adaptive immune system, Healthy control, Medicine, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, [SDV.IMM.IMM]Life Sciences [q-bio]/Immunology/Immunotherapy, Dermatomyositis, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, Acquired immune system, medicine.disease, 3. Good health, amyopathic dermatomyositis, Amyopathic dermatomyositis, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, 030220 oncology & carcinogenesis, [SDV.IMM.IA] Life Sciences [q-bio]/Immunology/Adaptive immunology, Immunology, flowcytometry, type I interferon, [SDV.IMM]Life Sciences [q-bio]/Immunology, medicine.symptom, [SDV.IMM.IMM] Life Sciences [q-bio]/Immunology/Immunotherapy, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.drug
Abstract: Amyopathic dermatomyositis (ADM) is a subtype of DM defined by the presence of cutaneous signs of DM with no evidence of muscle weakness or abnormal muscle enzymes for ≥ 6 months.1 Classical DM (CDM) is characterized by modification of circulating lymphocytes 4, type I interferon (IFN) signature 2, elevation of serum pro-inflammatory cytokines 3. Pathophysiology of ADM is less studied. We analysed circulating T cells by flowcytometry (using specific monoclonal antibodies), peripheral blood mononuclear cells type I IFN signature by PCR and serum cytokine levels by ELISA in a series of 17 ADM and 15 CDM patients. [...]
Published: 2021
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2. Large International Validation of ABSIS and PDAI Pemphigus Severity Scores

Author: Hébert, Vivien, Boulard, Claire, Houivet, Estelle, Lehembre, Sophie, Borradori, Luca, Della, Rocco, Feliciani, Claudio, Fania, Luca, Zambruno, Giovanna, Camaioni, Diana, Didona, Biago, Marinovic, Branka, Schmidt, Enno, Schumacher, Nina, Hü Nefeld 10, Christian, Schanz, Stefan, Kern, Johannes, Hofmann, Silke, Bouyeure, Anne, Picard-Dahan, Catherine, Prost-Squarcioni, Catherine, Caux, Frederic, Alexandre, Marina, Ingen-Housz-Oro, Saskia, Bagot, Martine, Tancrede-Bohin, Emmanuelle, David Bouaziz, Jean, Franck, Nathalie, Vabres, Pierre, Labeille, Bruno, Richard, Marie, Delaporte, Emmanuel, Dupuy, Alain, D'Incan, Michel, Quereux, Gaelle, Skowro, François, Paul, Carle, Livideanu, Cristina, Beylot-Barry, Marie, Doutre, Marie, Avenel-Audran, Martine, Bedane, Christophe, Bernard, Philippe, Machet, Laurent, Maillard, Hervé, Jullien, Denis, Debarbieux, Sebastien, Sassolas, Bruno, Misery, Laurent, Abasq, Claire, Dereure, Olivier, Lagoutte, Philippe, Ferranti, Vincent, Werth, Victoria, Murrell, Dedee, Hertl, Michael, Benichou, Jacques, Joly, Pascal, Duvert Lehembre, Sophie, Della Torre, Rocco, Hünefeld, Christian, Kern, Johannes Steffen, Bouyeure, Anne Charlotte, Bouaziz, Jean David, Richard, Marie Aleth, D’Incan, Michel, Livideanu, Cristina Bulai, Doutre, Marie Sylvie, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Pharmacoepidemiologie et évaluation de l'impact des produits de santé sur les populations, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Bordeaux Segalen - Bordeaux 2-Université de Rouen Normandie (UNIROUEN), Universität Bern [Bern], Molecular and Cell Biology Laboratory, IDI-IRCCS, Rome, Service de Dermatologie, Hôpital Bichat, AP-HP, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de dermatologie [Avicenne], Hôpital Avicenne-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris 13 (UP13), CHU Henri Mondor, Service de Dermatologie [AP-HP Hôpital Saint Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-AP-HP Hôpital Saint-Louis, Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), University Hospital of St-Etienne, Department of Dermatology, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes (UGA), Service de dermatologie (CHRU de Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Dermatologie [Rennes], CHU Pontchaillou [Rennes], Imagerie Moléculaire et Stratégies Théranostiques - Clermont Auvergne (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Service de dermatologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Département de Dermatologie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de Dermatologie [CHU Limoges], CHU Limoges, Club Rhumatismes et Inflammation, Service de Dermatologie, Centre Hospitalier Sud, Hospices Civils, Lyon, Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de dermatologie (Dermato - BREST), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et biothérapies des maladies inflammatoires et autoimmunes, Seventh Framework Programme, French Society of Dermatology, Centre Hospitalier Universitaire de Reims (CHU Reims), Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509 (IRMAIC), Université de Reims Champagne-Ardenne (URCA), CHU Rouen, Normandie Université (NU), Service de dermatologie [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Unité de biostatistiques [Rouen], Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 (UPD7), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Avicenne, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), L'Oréal recherche et innovation, L'Oréal, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-IFR140-Centre National de la Recherche Scientifique (CNRS), Service de Dermatologie, Hôtel-Dieu, Centre de Recherche en Cancérologie / Nantes - Angers (CRCNA), Centre hospitalier universitaire de Nantes (CHU Nantes)-Faculté de Médecine d'Angers-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Centre National de la Recherche Scientifique (CNRS)-Hôpital Laennec-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôtel-Dieu de Nantes, Université Toulouse III - Paul Sabatier (UPS), Immunodermatologie, Cytokines, Cancer - EA 7319 (ICA), Service de dermatologie (CHRU de Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), INSERM U1234, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service de Dermatologie [Rennes] = Dermatology [Rennes], Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Université Bordeaux Segalen - Bordeaux 2-Université de Rouen Normandie (UNIROUEN), Universität Bern [Bern] (UNIBE), IDI-IRCCS [Roma, Italy], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], CHU Henri Mondor [Créteil], Service de Dermatologie [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Université de Toulouse (UT), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Subjects: 0301 basic medicine, Autoimmune Bullous Skin Disorder Intensity Score, Intraclass correlation, [SDV]Life Sciences [q-bio], intraclass correlation coefficient, Autoimmunity, PV, Validation Studies as Topic, Severity of Illness Index, Biochemistry, PDAI, 0302 clinical medicine, Medicine, DLQI, Pemphigus foliaceus, Skin, integumentary system, Desmoglein 1, PGA, CI, 3. Good health, ABSIS, month, 030220 oncology & carcinogenesis, PF, medicine.medical_specialty, pemphigus vulgaris, [SDV.CAN]Life Sciences [q-bio]/Cancer, Dermatology, 03 medical and health sciences, Dermatology Quality of Life Index, Internal medicine, Severity of illness, Humans, In patient, pemphigus foliaceus, Molecular Biology, Autoantibodies, Pemphigus severity scores, ICC, business.industry, Pemphigus vulgaris, Cell Biology, medicine.disease, Confidence interval, Moderate extent, Pemphigus Disease Area Index, Pemphigus, 030104 developmental biology, confidence interval, Physician Global Assessment, business, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: IF 6.448 (2017); International audience; The Pemphigus Disease Area Index (PDAI) and Autoimmune Bullous Skin Disorder Intensity-Score (ABSIS) scores have been proposed to provide an objective measure of pemphigus activity. These scores have been evaluated only on already treated patients mainly with mild to moderate activity. The objective was to assess the interrater reliability of ABSIS and PDAI scores and their correlation with other severity markers in a large international study. Consecutive patients with newly diagnosed pemphigus were enrolled in 31 centers. Severity scores were recorded during a 24-month period by the same two blinded investigators. Serum was collected at each visit for ELISA measurement of anti-desmoglein antibodies. The intraclass correlation coefficient (ICC) and Spearman rank correlation coefficient were calculated. A total of 116 patients with pemphigus vulgaris (n = 84) or pemphigus foliaceus (n = 32) were included. At baseline, the ABSIS and PDAI ICCs were 0.90 (95% confidence interval [CI] = 0.85-0.93), and 0.91(95% CI = 0.87-0.94), respectively. The ICCs for PDAI were higher in moderate and extensive pemphigus (ICC = 0.82, 95% CI = 0.63-0.92 and ICC = 0.80, 95% CI = 0.62-0.90, respectively) than in patients with intermediate (significant) extent (ICC = 0.50, 95% CI = 0.27-0.68). Conversely, the ICCs for ABSIS were lower in patients with moderate extent (ICC = 0.44, 95% CI = 0.004-0.74) than in those with intermediate or extensive forms, (ICC = 0.69, 95% CI = 0.51-0.81 and ICC = 0.75, 95% CI = 0.51-0.88, respectively). During patients' follow-up, the ICCs of both ABSIS and PDAI scores remained higher than 0.70. ABSIS and PDAI skin (r = 0.71 and r = 0.75) but not mucosal (r = 0.32 and r = 0.37) subscores were correlated with the evolution of anti-DSG1 and anti-DSG3 ELISA values, respectively. ABSIS and PDAI scores are robust tools to accurately assess pemphigus activity.
Published: 2019
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3. Efficacy and safety of treatments in cutaneous polyarteritis nodosa: A French observational retrospective study

Author: Selim Aractingi, Florence Cordoliani, François Chasset, L. Frumholtz, Jean-David Bouaziz, Romain Paule, Alexis Régent, Nicolas Dupin, Benjamin Terrier, Thomas Bettuzzi, Marie Jachiet, Loïc Guillevin, Luc Mouthon, Emilie Sbidian, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Dermatologie [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), EPI-PHARE (EPI-PHARE), Caisse nationale d'assurance maladie des travailleurs salariés [CNAMTS]-Agence nationale de sécurité du médicament et des produits de santé [Saint-Denis] (ANSM), Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre d'Investigation Clinique Henri Mondor (CIC Henri Mondor), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Hôpital Cochin [AP-HP], Université Paris Cité (UPCité), Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Réseaux & Optimisation Combinatoire et Stochastique (ROCS), Laboratoire Interdisciplinaire des Sciences du Numérique (LISN), CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Science des Données (SDD), CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Université Paris Cité (UPC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Science des Données (SDD), and Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)
Subjects: medicine.medical_specialty, Cutaneous Polyarteritis Nodosa, Azathioprine, Dermatology, Dapsone, methotrexate, vasculitis, MESH: Polyarteritis Nodosa, Interquartile range, Internal medicine, Medicine, Humans, Adverse effect, Glucocorticoids, MESH: Azathioprine, Retrospective Studies, MESH: Humans, treatment, business.industry, cutaneous polyarteritis nodosa, Retrospective cohort study, MESH: Retrospective Studies, medicine.disease, humanities, Discontinuation, Polyarteritis Nodosa, body regions, MESH: Colchicine, Neoplasm Recurrence, Local, business, Vasculitis, MESH: Glucocorticoids, Colchicine, MESH: Neoplasm Recurrence, Local, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.drug
Abstract: Background Cutaneous polyarteritis nodosa is a form of medium-sized vessel vasculitis. Despite a disabling and prolonged course, data on treatment efficacy and safety remain scarce. Objectives We aimed to describe treatment efficacy and safety in patients with cutaneous polyarteritis nodosa. Methods This multicenter retrospective, observational study, recorded clinical and biologic data together with treatments received. The primary outcome was the rate of complete response at month 3. Secondary outcomes assessed drug survival and safety. Results We included 68 patients who received a median of 2 therapeutic lines (interquartile range, 1-3). Overall, complete response was achieved in 13 of 42 (31%) patients with colchicine, 4 of 17 (23%) with dapsone, 11 of 25 (44%) with glucocorticoids (GCs) alone, 1 of 9 (11%) with nonsteroidal anti-inflammatory drugs, 11 of 13 (84%) with GCs+azathioprine, and 7 of 15 (47%) with GCs+methotrexate. GCs+azathioprine had the best drug survival (median duration, 29.5 months; interquartile range, 19.5-36.0). Response at month 3 was decreased with peripheral neurologic involvement (odds ratio, 0.19; 95% confidence interval, 0.03-0.81; P = .04). Overall, the rate of treatment-related adverse events was 18%, which led to the discontinuation of treatment in 7% of patients. Limitation Retrospective study. Conclusion Colchicine seems to confer good benefit-risk balance in cutaneous polyarteritis nodosa without peripheral sensory neuropathy. GCs+azathioprine seem the best treatment in the event of relapse.
Published: 2021
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4. In vivo multiphoton imaging for non‐invasive time course assessment of retinoids effects on human skin

Author: Sébastien Brizion, Thérèse Baldeweck, Emmanuelle Tancrède-Bohin, Luc Souverain, Steeve Victorin, Blandine Ngo, Etienne Decencière, Martine Bagot, Edouard Raynaud, Ana-Maria Pena, L'Oréal Recherche France (L'Oréal Recherche), L'OREAL, Centre de Morphologie Mathématique (CMM), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université de Paris (UP)
Subjects: Fluorescence-lifetime imaging microscopy, Pathology, medicine.medical_specialty, Retinoic acid, Human skin, Dermatology, [INFO.INFO-NE]Computer Science [cs]/Neural and Evolutionary Computing [cs.NE], 01 natural sciences, 010309 optics, Melanin, 030207 dermatology & venereal diseases, 03 medical and health sciences, chemistry.chemical_compound, Retinoids, 0302 clinical medicine, Imaging, Three-Dimensional, In vivo, 0103 physical sciences, medicine, retinoic acid, Distribution (pharmacology), Humans, pigmentation, [MATH.TR-IMG]Mathematics [math]/domain_math.tr-img, Aged, Skin, Melanins, integumentary system, Chemistry, aging, Retinol, two-photon excited fluorescence, Original Articles, Middle Aged, fluorescence lifetime imaging, two‐photon excited fluorescence, melanin, Microscopy, Fluorescence, Multiphoton, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Female, Original Article, sense organs, human skin, Epidermal thickening, retinol
Abstract: International audience; BackgroundIn vivo multiphoton imaging and automatic 3D image processing tools provide quantitative information on human skin constituents. These multiphoton‐based tools allowed evidencing retinoids epidermal effects in the occlusive patch test protocol developed for antiaging products screening. This study aimed at investigating their relevance for non‐invasive, time course assessment of retinoids cutaneous effects under real‐life conditions for one year.Materials and MethodsThirty women, 55‐65 y, applied either retinol (RO 0.3%) or retinoic acid (RA 0.025%) on one forearm dorsal side versus a control product on the other forearm once a day for 1 year. In vivo multiphoton imaging was performed every three months, and biopsies were taken after 1 year. Epidermal thickness and dermal‐epidermal junction undulation were estimated in 3D with multiphoton and in 2D with histology, whereas global melanin density and its z‐epidermal distribution were estimated using 3D multiphoton image processing tools.ResultsMain results after one year were as follows: a) epidermal thickening with RO (+30%); b) slight increase in dermal‐epidermal junction undulation with RO; c) slight decrease in 3D melanin density with RA; d) limitation of the melanin ascent observed with seasonality and time within supra‐basal layers with both retinoids, using multiphoton 3D‐melanin z‐epidermal profile.ConclusionsWith a novel 3D descriptor of melanin z‐epidermal distribution, in vivo multiphoton imaging allows demonstrating that daily usage of retinoids counteracts aging by acting not only on epidermal morphology, but also on melanin that is shown to accumulate in the supra‐basal layers with time.
Published: 2020
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5. Factors Associated With Short-term Relapse in Patients With Pemphigus Who Receive Rituximab as First-line Therapy

Author: Mignard, Claire, Maho-Vaillant, Maud, Golinski, Marie-Laure, Balayé, Pierre, Prost-Squarcioni, Catherine, Houivet, Estelle, Calbo, Sé Bastien, Labeille, Bruno, Picard-Dahan, Catherine, Konstantinou, Maria Polina, Chaby, Guillaume, Richard, Marie-Aleth, Bouaziz, Jean-David, Duvert-Lehembre, Sophie, Delaporte, Emmanuel, Bernard, Philippe, Caux, Frédéric, Alexandre, Marina, Ingen-Housz-Oro, Saskia, Vabres, Pierre, Quéreux, Gaelle, Dupuy, Alain, Debarbieux, Sebastien, Avenel-Audran, Martine, d'Incan, Michel, Bedane, Christophe, Beneton, Nathalie, Jullien, Denis, Dupin, Nicolas, Misery, Laurent, Machet, Laurent, Beylot-Barry, Marie, Dereure, Olivier, Sassolas, Bruno, Bénichou, Jacques, Joly, Pascal, Hebert, Vivien, Calbo, Sébastien, Service de dermatologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de biostatistiques [CHU Rouen], University Hospital of St-Etienne, Department of Dermatology, Service de Dermatologie, Hôpital Bichat, AP-HP, Service de dermatologie [CHU d'Amiens-Picardie], CHU Amiens-Picardie, Département de dermatologie, CHU Marseille, CHU Marseille, Service de Dermatologie [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Hôpital Claude Huriez [Lille], CHU Lille, Immunodermatologie, Cytokines, Cancer - EA 7319 (ICA), Université de Reims Champagne-Ardenne (URCA), Service de dermatologie [Avicenne], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Henri Mondor, Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Clinical and Translational Research in Skin Cancer (CRCINA-ÉQUIPE 2), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Service de Dermatologie [Rennes] = Dermatology [Rennes], CHU Pontchaillou [Rennes], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Dermatologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Service de Dermatologie [CHU Limoges], CHU Limoges, Centre Hospitalier Le Mans (CH Le Mans), Club Rhumatismes et Inflammation, EA1833, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de dermatologie, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Bordeaux [Bordeaux], Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Hôpital Charles Nicolle [Rouen], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service de Dermatologie [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509 (IRMAIC), CHU Henri Mondor [Créteil], Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Subjects: integumentary system, immune system diseases, [SDV]Life Sciences [q-bio], education, [SDV.CAN]Life Sciences [q-bio]/Cancer, macromolecular substances
Abstract: International audience; Importance: Rituximab and short-term corticosteroid therapy are the criterion standard treatments for patients with newly diagnosed moderate to severe pemphigus.Objective: To examine factors associated with short-term relapse in patients with pemphigus treated with rituximab.Design, setting, and participants: This post hoc analysis of a randomized clinical trial (Comparison Between Rituximab Treatment and Oral Corticosteroid Treatment in Patients With Pemphigus [RITUX 3]) conducted from January 1, 2010, to December 31, 2015, included patients from 20 dermatology departments of tertiary care centers in France from the RITUX 3 trial and 3 newly diagnosed patients treated according to the trial protocol. Data analysis was performed from February 1 to June 30, 2019.Exposure: Patients randomly assigned to the rituximab group in the RITUX 3 trial and the 3 additional patients were treated with 1000 mg of intravenous rituximab on days 0 and 14 and 500 mg at months 12 and 18 combined with a short-term prednisone regimen.Main outcomes and measures: Baseline (pretreatment) clinical and biological characteristics (Pemphigus Disease Area Index [PDAI] score, ranging from 0-250 points, with higher values indicating more severe disease) and changes in anti-desmoglein (DSG) 1 and anti-DSG3 values as measured by enzyme-linked immunosorbent assay during the 3 months after rituximab treatment were compared between patients with disease relapse and those who maintained clinical remission during the first 12 months after treatment. The positive and negative predictive values of these factors were calculated.Results: Among 47 patients (mean [SD] age, 54.3 [17.0] years; 17 [36%] male and 30 [64%] female) included in the study, the mean (SD) baseline PDAI score for patients with relapsing disease was higher than that of the patients with nonrelapsing disease (54 [33] vs 28 [24]; P = .03). At month 3, 7 of 11 patients with relapsing disease (64%) vs 7 of 36 patients with nonrelapsing disease (19%) had persistent anti-DSG1 antibody values of 20 IU/mL or higher and/or anti-DSG3 antibody values of 130 IU/mL or higher (P = .01). A PDAI score of 45 or higher defining severe pemphigus and/or persistent anti-DSG1 antibody values of 20 IU/mL or higher and/or anti-DSG3 antibody values of 130 IU/mL or higher at month 3 provided a positive predictive value of 50% (95% CI, 27%-73%) and a negative predictive value of 94% (95% CI, 73%-100%) for the occurrence of relapse after rituximab.Conclusions and relevance: The findings suggest that initial PDAI score and changes in anti-DSG antibody values after the initial cycle of rituximab might help differentiate a subgroup of patients with high risk of relapse who might benefit from maintenance rituximab infusion at month 6 from a subgroup of patients with low risk of relapse who do not need early maintenance therapy.Trial registration: NCT00784589.
Published: 2020
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6. HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma

Author: Sonigo, Gabrielle, Battistella, Maxime, Beylot-Barry, Marie, Ingen-Housz-Oro, Saskia, Franck, Nathalie, Barète, Stéphane, Boulinguez, Serge, Dereure, Olivier, Bonnet, Nathalie, Brice, Pauline, Boccara, Olivia, Bodemer, Christine, Adamski, Henri, D'Incan, Michel, Ortonne, Nicolas, Fraitag, Sylvie, Brunet-Possenti, Florence, Dalle, Stéphane, Suarez, Felipe, Skowron, François, Haidar, Dima, Maubec, Eve, Bohelay, Gerome, Laroche, Liliane, Mahé, Antoine, Birckel, Elodie, Bouaziz, Jean-David, Brocheriou, Isabelle, Dubois, Romain, Faiz, Sarah, Fadlallah, Jehane, Ram-Wolff, Caroline, Carlotti, Agnès, Bens, Guido, Balme, Brigitte, Vergier, Béatrice, Laurent-Roussel, Sara, Deschamps, Lydia, Carpentier, Olivier, Moguelet, Philippe, Herve, Genevieve, Comoz, Francois, Le Gall, François, Leverger, Guy, Finon, Antoine, Augereau, Olivier, Blechet, Claire, Kerdraon, Rémy, Lamant, Laurence, Tournier, Emilie, Franck, Frédéric, Costes-Martineau, Valérie, Szablewski, Vanessa, Taix, Sebastien, Beschet, Isabelle, Guérin, Frédéric, Sepulveda Garrido, Fernando, Bagot, Martine, De Saint Basile, Geneviève, Michonneau, David, de Masson, Adèle, Socié, Gérard, Bodemer, Shristine ChB, Marçais, Ambroise, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Bordeaux [Bordeaux], CHU Henri Mondor, Service de Dermatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Service de médecine interne et d'immunologie clinique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Toulouse [Toulouse], Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM), Hôpital Nord [CHU - APHM], Service d'Hémato-oncologie [CHU Saint-Louis], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Service de dermatologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], CHU Pontchaillou [Rennes], CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service d'immuno-hématologie pédiatrique [CHU Necker], Centre Hospitalier de Valence (CH DE VALENCE), Centre hospitalier de Valence, Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Avicenne [AP-HP], Hôpital pasteur [Colmar], Service de Dermatologie [AP-HP Hôpital Saint-Louis], Service d'Anatomie et cytologie pathologiques [CHU Pitié-Salpêtrière] (ACP), Mouvement, Équilibre, Performance, Santé (MEPS), Université de Pau et des Pays de l'Adour (UPPA), Service de Dermatologie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Immunologie et de Maladies Infectieuses (CIMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiopathologie du cancer du foie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Bordeaux Segalen - Bordeaux 2, Service de pathologie [CHU Bichat], Service d’Anatomie et cytologie pathologiques [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional d'Orléans (CHRO), Service d'anatomie et cytologie pathologiques [Purpan], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Laboratoire d'aérologie (LAERO), Centre National de la Recherche Scientifique (CNRS)-Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Unité d'hématologie et de transplantation, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service d’anatomie et cytologie pathologiques [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Centre Hospitalier Régional d'Orléans (CHR), Laboratoire d'aérologie (LA), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS), Immunologie humaine, physiopathologie & immunithérapie (HIPI (UMR_S_976 / U976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service d'Anatomie et cytologie pathologiques = Service de Pathologie [CHU Pitié-Salpêtrière] (ACP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service d'Anatomie et cytologie pathologiques [CHU Tenon], CHU Tenon [AP-HP], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Anatomie et cytologie pathologiques [CHU Toulouse], Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), COLO, Mouniati, Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Henri Mondor [Créteil], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse], Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Pathology, medicine.medical_specialty, Panniculitis, [SDV]Life Sciences [q-bio], Immunology, 2 supplemental tables, [SDV.CAN]Life Sciences [q-bio]/Cancer, Lymphoma, T-Cell, HAVCR2, Biochemistry, Lymphohistiocytosis, Hemophagocytic, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Subcutaneous Panniculitis-Like T-Cell Lymphoma, 9 references Article type: Letter Scientific category: Lymphoma, Humans, Medicine, Genetic Predisposition to Disease, Hepatitis A Virus Cellular Receptor 2, Genetic Association Studies, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Hemophagocytic lymphohistiocytosis, business.industry, Cell Biology, Hematology, medicine.disease, 3. Good health, Lymphoma, [SDV] Life Sciences [q-bio], 1 supplemental figure, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), 2 tables, Female, business, Biomarkers
Abstract: International audience
Published: 2020
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7. Diagnosis and Management of Pemphigus: recommendations by an International Panel of Experts

Author: Katarzyna Wozniak, Catherine Prost-Squarcioni, Savaş Yayli, Branka Marinović, Donna A. Culton, Michael Hertl, Guiseppe Cianchini, Snejina Vassileva, Dedee F. Murrell, Aikaterini Patsatsi, Marwah A. Saleh, Sergei A. Grando, Pilar Iranzo, Dimitrios Ioannides, Annette Czernik, Aimee S. Payne, Claudio Feliciani, Johann W. Bauer, Francis Palisson, Luca Borradori, Jun Yamagami, Valeria Aoki, Karen E. Harman, Soner Uzun, Hideyuki Ujiie, Philippe Bernard, M. Peter Marinkovich, Daniel Mimouni, Richard Groves, Enno Schmidt, Cezary Kowalewski, Russell P. Hall, Pascal Joly, Hana Jedličková, John J. Zone, Neil J. Korman, Kossara Drenovska, Soo Chan Kim, Julia S. Lehman, Sharon Baum, Masayuki Amagai, Frédéric Caux, Adela R. Cardones, José M. Mascaró, Takashi Hashimoto, Victoria P. Werth, Emanual Michael Maverakis, Animesh A. Sinha, David P. Fivenson, Marcel F. Jonkman, Hiroshi Shimizu, Rüdiger Eming, Sandra Pena, Ron J. Feldman, Detlef Zillikens, Luis A. Diaz, Ayşe Akman-Karakaş, Maryam Daneshpazhooh, Centre Hospitalier Universitaire de Reims (CHU Reims), Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509 (IRMAIC), Université de Reims Champagne-Ardenne (URCA), Service de dermatologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), INSERM U1234, OSA (XLIM-OSA), XLIM (XLIM), Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Centre National de la Recherche Scientifique (CNRS), Hospital of the University of Pennsylvania (HUP), Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Universität Bern [Bern], Immunodermatologie, Cytokines, Cancer - EA 7319 (ICA), Service de dermatologie [Avicenne], Hôpital Avicenne-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris 13 (UP13), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Akdeniz University, St. John's Institute of Dermatology, London School of Medicine, Stanford University [Stanford], Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Stanford University
Subjects: Standardization, Delphi Technique, [SDV]Life Sciences [q-bio], Delphi method, Severity of Illness Index, 030207 dermatology & venereal diseases, 0302 clinical medicine, Medicine, CD20 inhibitor, guidelines, skin and connective tissue diseases, health care economics and organizations, computer.programming_language, Majority opinion, integumentary system, treatment, Academies and Institutes, Treatment options, Plasmapheresis, Combined Modality Therapy, 3. Good health, consensus, pemphigus foliaceus, pemphigus vulgaris, Europe, 030220 oncology & carcinogenesis, Combination, Practice Guidelines as Topic, Administration, Intravenous, Rituximab, Venereology, Consensus, Clinical Sciences, education, 610 Medicine & health, Dermatology, Article, 03 medical and health sciences, Drug Therapy, Humans, Immunologic Factors, Generalizability theory, CD20, Antigens, Glucocorticoids, Medical education, business.industry, Dermatology & Venereal Diseases, business, computer, Delphi, Pemphigus, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Background-Several European countries recently developed international diagnostic and management guidelines for pemphigus, which have been instrumental in the standardization of pemphigus management. Objective-We now present results from a subsequent Delphi consensus to broaden the generalizability of the recommendations. Methods-A preliminary survey, based on the European Dermatology Forum and the European Academy of Dermatology and Venereology guidelines, was sent to a panel of international experts to determine the level of consensus. The results were discussed at the International Bullous Diseases Consensus Group in March 2016 during the annual American Academy of Dermatology conference. Following the meeting, a second survey was sent to more experts to achieve greater international consensus. Results-The 39 experts participated in the first round of the Delphi survey, and 54 experts from 21 countries completed the second round. The number of statements in the survey was reduced from 175 topics in Delphi I to 24 topics in Delphi II on the basis of Delphi results and meeting discussion. Limitations-Each recommendation represents the majority opinion and therefore may not reflect all possible treatment options available. Conclusions-We present here the recommendations resulting from this Delphi process. This international consensus includes intravenous CD20 inhibitors as a first-line therapy option for moderate-to-severe pemphigus. Keywords CD20 inhibitor; consensus; guidelines; pemphigus foliaceus; pemphigus vulgaris; treatment Pemphigus encompasses a spectrum of rare mucocutaneous bullous diseases that are autoimmune in origin. Because of the rarity of these diseases, it can take patients months before their pemphigus is diagnosed, during which time many are treated for other blistering diseases. 1,2 Even once the diagnosis has been made, treatment regimens can vary greatly, as
Published: 2020
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8. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

Author: J. Küsel, Julien Thevenon, Emmanuelle Bourrat, Steffen Hörer, Rudolf Happle, Lisa Heinz, Pierre Vabres, Svenja Alter, Alrun Hotz, Andreas Zimmer, Judith Fischer, Fakultät für Biologie = Faculty of Biology [Freiburg], Albert-Ludwigs-Universität Freiburg, Center for Human Genetics Freiburg, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), FHU TRANSLAD (CHU de Dijon), University of Freiburg [Freiburg], Department of Dermatology, University Medical Center Freiburg, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, and FHU TRANSLAD
Subjects: Adult, Zygote, DNA Mutational Analysis, Dermatology, Biology, Postzygotic mutation, medicine.disease_cause, PORCN, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, Goltz syndrome, Skin, Genetics, Mutation, Mosaicism, Mouth Mucosa, Genetic disorder, High-Throughput Nucleotide Sequencing, Membrane Proteins, cutaneous mosaicism, Karyotype, medicine.disease, Focal dermal hypoplasia, 3. Good health, focal dermal hypoplasia, Female, Klinefelter syndrome, Acyltransferases, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In males, hemizygous PORCN mutations are lethal in utero. Around 300 cases have been reported in the literature to date. About 10% of them are males presenting either Klinefelter syndrome (karyotype 47, XXY) or mosaicism of a postzygotic mutation. Here we describe four cases of women with typical features of FDH, in whom a PORCN mutation was found in DNA from affected cutaneous tissue but not in DNA from peripheral blood. This study suggests that mosaicism caused by a postzygotic mutation occurs more often than assumed to date in female patients with FDH. A negative analysis performed on peripheral blood DNA does not exclude the diagnosis of FDH and it is thereby of practical importance to analyse DNA from the affected skin in order to identify low level mosaicism and thus to improve diagnostic precision. In total, we found two missense variants, one novel indel and one novel splice site variant. Individuals harbouring postzygotic mosaicism run a risk of transmitting the disorder to their daughters, because the maternal mosaic could also affect the gonads. This article is protected by copyright. All rights reserved.
Published: 2018
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9. Rituximab is an effective treatment in patients with pemphigus vulgaris and demonstrates a steroid‐sparing effect

Author: Bruno Sassolas, Frédéric Caux, Olivier Dereure, Saskia Ingen-Housz-Oro, E. Csinady, Estelle Houivet, D.M. Chen, Jean-David Bouaziz, C. Prost‐Squarcioni, S. Duvert-Lehembre, Sébastien Calbo, P. Bernard, Pierre Vabres, Nicolas Dupin, L. Gearhart, Pascal Joly, Laurent Machet, Jacques Benichou, A. Odueyungbo, Carle Paul, Philippe Musette, Gaëlle Quéreux, Sébastien Debarbieux, Alain Dupuy, Catherine Picard-Dahan, Nathalie Beneton, Emmanuel Delaporte, Maud Maho-Vaillant, Michel D'Incan, Marie-Laure Golinski, Denis Jullien, Frédérique Caillot, P.B. Lehane, Marie Aleth Richard, Bruno Labeille, Laurent Misery, Christophe Bedane, M. Alexandre, Vivien Hébert, Martine Avenel-Audran, M. Cheu, Marie Beylot-Barry, Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de biostatistiques [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), University Hospital of St-Etienne, Department of Dermatology, Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'oncologie [Hôpital privé Toulon Hyères : Sainte Marguerite], Hôpital privé Toulon Hyères : Sainte Marguerite, Commissariat à l'Energie Atomique (CEA), Institut de Biologie et Technologies de Saclay, Hôpital Henri Mondor, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Hôpital Claude Huriez [Lille], CHU Lille, Service de dermatologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Service de dermatologie [CH Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Institut Laue-Langevin (ILL), Calcul Thermodynamique, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Centre Hospitalier Universitaire de Reims (CHU Reims), Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509 (IRMAIC), Université de Reims Champagne-Ardenne (URCA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, ILL, Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM), Hôpital Charles Nicolle [Rouen], Service de Dermatologie [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])
Subjects: medicine.medical_specialty, Prednisolone, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Dermatology, Gastroenterology, law.invention, Antibodies, Monoclonal, Murine-Derived, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Prednisone, Internal medicine, Humans, Immunologic Factors, Medicine, In patient, Adverse effect, ComputingMilieux_MISCELLANEOUS, business.industry, Standard treatment, Pemphigus vulgaris, Original Articles, medicine.disease, Clinical Trial, 3. Good health, Treatment Outcome, [SDV.IMM]Life Sciences [q-bio]/Immunology, Rituximab, business, Adjuvant, Immunosuppressive Agents, Pemphigus, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: Summary Background Corticosteroids (CS) with or without adjuvant immunosuppressant agents are standard treatment for pemphigus vulgaris (PV). The efficacy of adjuvant therapies in minimizing steroid‐related adverse events (AEs) is unproven. Objectives To utilize data collected in a French investigator‐initiated, phase III, open‐label, randomized controlled trial to demonstrate the efficacy and safety of rituximab and seek approval for its use in PV. Methods This was an independently conducted post hoc analysis of the moderate‐to‐severe PV subset enrolled in the Ritux 3 study. Patients were randomized to rituximab plus 0·5 or 1·0 mg kg−1 per day prednisone tapered over 3 or 6 months, or 1·0 or 1·5 mg kg−1 per day prednisone alone tapered over 12 or 18 months, respectively (according to disease severity). The primary end point was complete remission at month 24 without CS (CRoff) for ≥ 2 months, and 24‐month efficacy and safety results were also reported. Results At month 24, 34 of 38 patients (90%) on rituximab plus prednisone achieved CRoff ≥ 2 months vs. 10 of 36 patients (28%) on prednisone alone. Median total cumulative prednisone dose was 5800 mg in the rituximab plus prednisone arm vs. 20 520 mg for prednisone alone. Eight of 36 patients (22%) who received prednisone alone withdrew from treatment owing to AEs; one rituximab‐plus‐prednisone patient withdrew due to pregnancy. Overall, 24 of 36 patients (67%) on prednisone alone experienced a grade 3/4 CS‐related AE vs. 13 of 38 patients (34%) on rituximab plus prednisone. Conclusions In patients with moderate‐to‐severe PV, rituximab plus short‐term prednisone was more effective than prednisone alone. Patients treated with rituximab had less CS exposure and were less likely to experience severe or life‐threatening CS‐related AEs. What's already known about this topic? Pemphigus vulgaris (PV) is the most common type of pemphigus.Corticosteroids, a standard first‐line treatment for PV, have significant side‐effects.Although their effects are unproven, adjuvant corticosteroid‐sparing agents are routinely used to minimize steroid exposure and corticosteroid‐related side‐effects.There is evidence that the anti‐CD20 antibody rituximab is effective in the treatment of patients with severe recalcitrant pemphigus and in patients with newly diagnosed pemphigus. What does this study add? This study provides a more detailed analysis of patients with PV enrolled in an investigator‐initiated trial.Rituximab plus prednisone had a steroid‐sparing effect and more patients achieved complete remission off prednisone.Fewer patients experienced grade 3 or grade 4 steroid‐related adverse events than those on prednisone alone.This collaboration between academia and industry, utilizing independent post hoc analyses, led to regulatory authority approvals of rituximab in moderate‐to‐severe PV., Linked Comment: Scorer et al. Br J Dermatol 2020; 182:1078–1079.
Published: 2019
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10. Dermatomyosite et anticorps anti-SAE : des patients peu déficitaires avec un risque accru de troubles de la déglutition et de pneumopathie organisée

Author: P. Guillaume-Jugnot, Y. Allenbach, Mathieu Vautier, J. Schmidt, Pierre Duffau, Aude Rigolet, Marie Jachiet, Nadège Cordel, Alice Bérezné, Olivier Benveniste, J. Graveleau, Olivier Chosidow, Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Interne [CHU de Bordeaux], CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU de Bordeaux], Centre hospitalier universitaire de Nantes (CHU Nantes), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Epidemiology in Dermatology and Evaluation in Therapeutics (EpiDermE), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
Subjects: [SDV]Life Sciences [q-bio], Gastroenterology, Internal Medicine
Abstract: Introduction Les anticorps specifiques des myosites sont devenus un outil diagnostic crucial car ils delimitent des groupes homogenes de patients (phenotype et pronostic). Les anticorps anti-SAE ont ete decouverts en 2007 chez des patients atteints de dermatomyosites (DM). Ils representent moins de 10 % des DM. A ce jour, le nombre de cas ou de serie de patients reste limite. Les DM associee a l’anticorps anti-SAE (anti-SAE + ) auraient un phenotype cutaneomusculaire classique mais il n’existe pas de description histologique des lesions musculaires. De plus, l’existence d’atteinte thoracique ou de cancer synchrone reste a caracteriser. Patients et methodes Nous avons fait un appel a observation aupres de 37 centres hospitaliers de medecine interne et de dermatologie. Nous avons inclus les patients avec un diagnostic de dermatomyosite selon les criteres ENMC (periode 1992–2018), et chez qui les anticorps anti-SAE etait positifs. Les caracteristiques demographiques, cliniques, paracliniques et les traitements ont ete analyses retrospectivement. Les biopsies musculaires disponibles ont ete revues. Resultats Les patients (n = 27) etaient majoritairement des femmes (87,5 %) avec un âge median au diagnostic de 51 ans [12–82]. Tous les patients presentaient des lesions classiques de DM en zones photo-exposees (erytheme du decollete (69 %) ; signe du châle (58 %) ; et des mains, erytheme peri-ingueal (77 %), signe de gottron (73 %)). Trois patients ont presente des ulcerations cutanees et un seul des calcifications sous-cutanees. L’atteinte musculaire etait presente chez 85 % des patients. Deux tiers (65 %) des patients avaient une faiblesse musculaire proximale, mais le deficit etait d’intensite moderee (Score MRC median de 4 [3–5]). En revanche, pres de la moitie des patients (43 %) avaient des troubles de la deglutition. Les CPK etaient moderement elevees avec un taux median de 261 UI/l [63–2900]. Cinq patients sur 27 (20 %) presentaient une atteinte parenchymateuse sur le scanner : pneumopathie organisee (PO) (n = 2/5) ; pneumopathie interstitielle non specifique (PINS) (n = 2/5) ou PINS/PO (n = 1/5). Les explorations fonctionnelles respiratoires etaient normales dans la majorite des cas (n = 3/5) ou retrouvait un syndrome restrictif. Des arthralgies etaient rapportees dans 20 % des cas. Un seul patient presentait des synovites. Un patient presentait un aspect de myocardite sur l’IRM cardiaque realisee de maniere systematique en l’absence de point d’appel cardiovasculaire. Trois patients (11 %), presentaient une pathologie neoplasique synchrone (cancer du rectum ; cancer de l’ovaire ; et une thrombocytemie essentielle). Tous les patients presentaient une fluorescence nucleaire mouchetee sur le test de depistage des auto-Ac sur cellule HEP2. La majorite des patients ont ete traites en premiere intention par corticotherapie par voie generale (92 %) et 76 % ont recu un traitement immunosuppresseur associe (methotrexate dans n = 12/19). Cinquante pourcents des patients ont recu des immunoglobulines intraveineuses, principalement en raison de troubles de deglutition (69 %). La duree mediane de suivi etait 21,5 mois [1–302]. Majoritairement (57 %), les patients n’ont recu qu’une seule ligne de traitement. Les autres ont recu plusieurs lignes de traitement en raison de rechute ou de persistance de signes cliniques cutanees et/ou musculaire (2 lignes, n = 5 ; 3 lignes, n = 3 et 4 lignes, n = 1) Seul un patient est decede au cours du suivi, des complications d’une tuberculose disseminee. Conclusion Les DM anti-SAE+ sont un sous-groupe rare de DM caracterise par une atteinte cutanee « typique », un deficit musculaire peu severe mais avec un risque important de troubles de deglutition. Des atteintes non graves parenchymateuses pulmonaires peuvent etre observees le plus souvent de type PO. Dans cette serie le risque de cancer semble faible.
Published: 2018
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11. Distinctive cutaneous and systemic features associated with specific antimyositis antibodies in adults with dermatomyositis: a prospective multicentric study of 117 patients

Author: Djaouida Bengoufa, Jean-Luc Schmutz, Thierry Vincent, François Chasset, Jean-David Bouaziz, Anne Cosnes, Aurélie Du-Thanh, Nicolas Molinari, Nadège Cordel, T. Hubiche, Bernard Guillot, Y. Le Corre, Céline Girard, M. Best, Marie Jachiet, Valérie Pallure, F. Manna, M. Dandurand, Olivier Dereure, Didier Bessis, Camille Francès, Dan Lipsker, C. Bulai Livideanu, Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Institut Montpelliérain Alexander Grothendieck ( IMAG ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Saint Jean de Perpignan, Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Université de Strasbourg ( UNISTRA ), CHU Strasbourg, Centre Hospitalier Intercommunal Fréjus - St Raphaël ( CHI Fréjus - St Raphaël ), Service de Dermatologie et Allergologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Centre Hospitalier Universitaire d'Angers ( CHU Angers ), PRES Université Nantes Angers Le Mans ( UNAM ), CHU Pointe-à-Pitre/Abymes [Guadeloupe], Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes ), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Montpellier ( UM ) -Centre Hospitalier Universitaire de Montpellier ( CHU Montpellier ), CHU Toulouse [Toulouse], Service de Dermatologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Tenon [APHP], Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 ( UPD7 ) -CHU Saint Louis [APHP], Université de Montpellier ( UM ), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Montpelliérain Alexander Grothendieck (IMAG), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université de Strasbourg (UNISTRA), Centre Hospitalier Intercommunal Fréjus - St Raphaël (CHI Fréjus - St Raphaël), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Service de dermatologie et allergologie [CHU Tenon], CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Régional Universitaire de Nîmes (CHRU Nîmes), Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], and Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP]
Subjects: Adult, Male, medicine.medical_specialty, Interferon-Induced Helicase, IFIH1, Poikiloderma, Dermatology, Hand Dermatoses, Antibodies, Dermatomyositis, Amino Acyl-tRNA Synthetases, 030207 dermatology & venereal diseases, 03 medical and health sciences, Necrosis, Young Adult, 0302 clinical medicine, Calcinosis, Neoplasms, medicine, Humans, Prospective Studies, Prospective cohort study, Aged, Skin, 030203 arthritis & rheumatology, Adenosine Triphosphatases, Aged, 80 and over, business.industry, Interstitial lung disease, Autoantibody, Cancer, Odds ratio, Middle Aged, medicine.disease, 3. Good health, DNA-Binding Proteins, Infectious Diseases, Phenotype, Female, Joint Diseases, business, Lung Diseases, Interstitial, [ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Transcription Factors
Abstract: BACKGROUND: Identification of myositis-specific autoantibodies (MSAs) for dermatomyositis (DM) could allow the characterization of an antibody-associated clinical phenotype. OBJECTIVE: We sought to define the clinical phenotype of DM and the risk of cancer, interstitial lung disease (ILD) and calcinosis based on MSA. METHODS: A 3.5-year multicentre prospective study of adult DM patients was conducted to determine the clinical phenotype associated with MSAs and the presence of cancer, ILD and calcinosis. RESULTS: MSAs were detected in 47.1% of 117 included patients. Patients with antimelanoma differentiation-associated protein-5 antibodies (13.7%) had significantly more palmar violaceous macules/papules [odds ratio (OR) 9.9], mechanic's hands (OR 8), cutaneous necrosis (OR 3.2), articular involvement (OR 15.2) and a higher risk of ILD (OR 25.3). Patients with antitranscriptional intermediary factor-1 antibodies (11.1%), antinuclear matrix protein-2 antibodies (6.8%) and antiaminoacyl-transfer RNA synthetase (5.1%) had, respectively, significantly more poikiloderma (OR 5.9), calcinosis (OR 9.8) and articular involvement (OR 15.2). Cutaneous necrosis was the only clinical manifestation significantly associated with cancer (OR 3.1). CONCLUSION: Recognition of the adult DM phenotype associated with MSAs would allow more accurate appraisal of the risk of cancer, ILD and calcinosis.
Published: 2017
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12. Value of biomarkers for predicting immunoglobulin A vasculitis nephritis outcome in an adult prospective cohort

Author: Claire Demongeot, Manuelle Viguier, Jean-Jacques Boffa, Stéphanie Tellier, Margarita Hurtado-Nedelec, Vincent Pestre, Gérard Cheron, Guillaume Burda, Martin Flamant, Héloïse Flament, Jérôme Verine, Alexandre Seidowsky, E Bourrat, Stéphane Decramer, Mathilde de Menthon, Karine Brochard, Karim Bouchireb, Maud Bezier, Evangeline Pillebout, Fabrice Mihout, Martine Bagot, Olivier Fain, Maya Halabi-Tawil, Agnès Jamin, Philippe Remy, Sonia Azib, Vincent Audard, Monique Dehoux, Jacqueline Rivet, Quentin Raimbourg, Denis Viglietti, Alexis Mathian, Laure Champion, Guillaume Bussone, Bertrand Godeau, Eric Daugas, Anne Saussine-Hickman, Antoine Froissart, Eric Thervet, Elisa Funck-Brentano, Alain Robert, Laureline Berthelot, Nathalie Vittoz, Nicolas Limal, Denis Glotz, Georges Deschênes, Isabelle Halphen, Theresa Kwon, Laurence Vrigneaud, Pierre Housset, Sophie Georgin-Lavialle, Florence Cordoliani, Arsene Mekinian, Virginia Sauvaget, Philippe Grimbert, Jean Christophe Mercier, Philippe Vanhille, Véronique Baudouin, François Vrtovsnik, Agathe Raynaud-Simon, Renato C. Monteiro, Jean-David Bouaziz, Leila Tricot, Laurène Dehoux, Melissa Pierre, Alexandre Karras, Laure Dehen, Céline Lebas, Nathalie Bocquet, Marc Fila, Claire Dossier, Thomas Quemeneur, Maryam Piram, Coralie Bloch-Queyrat, Antoine Dossier, David Verhelst, Anne Maisin, Olivier Benveniste, Dominique Farge, Charlotte Fite, Loïc Guillevin, Rémi Salomon, Emmanuelle Vidal-Petiot, Zahir Amoura, Valérie Caudwell, Assia Smail, Philippe Bouvier, Michel Delahousse, Gentiane Monsel, Jonathan M. Chemouny, Hamza Ayari, Anne-Sophie Verhoeven, Centre de Recherche en Transplantation et Immunologie (U1064 Inserm - CRTI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Néphrologie [Saint-Louis], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie [Bichat - Claude Bernard], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), UMR 1599, Centre National de la Recherche Scientifique (CNRS), Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de néphrologie [CHU Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Henri Mondor, Service de néphrologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Institut Mondor de recherche biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de neuropédiatrie et maladies métaboliques [CHU Robert-Debré], Sorbonne Université (SU), Hôpital Saint-Louis, Institut National de l'Environnement Industriel et des Risques (INERIS), Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Dermatologie [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of dermatology, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service Pédiatrique [Toulouse], CHU Toulouse [Toulouse], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Sud Francilien, Department of Dermatology, Institut de médecine moléculaire de Rangueil (I2MR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service de transplantation rénale, Hôpital Foch [Suresnes], AP-HP, Service de Néphrologie Pédiatrique, Hôpital Robert Debré, Paris, Hôpital Bicêtre, Service de Médecine Interne, Centre de Recherche Saint-Antoine (UMRS893), Physiopathologie et Epidemiologie de l'Insuffisance Respiratoire, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine interne, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de dermatologie, Service de Physiologie [Bichat-Claude Bernard], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Immunité et cancer (U932), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Physiopathologie des maladies génétiques d'expression pédiatrique, Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), AP-HP Hôpital universitaire Robert-Debré [Paris], Service de Néphrologie [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de rhumatologie [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Département de Néphrologie = Service de Néphrologie et Dialyses [CHU Tenon], CHU Tenon [AP-HP], Service de Pédiatrie Générale et Rhumatologie Pédiatrique, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, CH Valenciennes, Université Paris Descartes - Paris 5 (UPD5), Gvh et Gvl : Physiopathologie Chez l'Homme et Chez l'Animal, Incidence et Role Therapeutique, Développement et Communication Chimique chez les Insectes (DCCI), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre de Référence du Sud Ouest des Maladies Rénales Rares, Service de néphrologie adultes [CHU Necker], Service de médecine interne et néphrologie, Centre Hospitalier Henri Duffaut (Avignon), Service de Néphrologie [Valenciennes], Centre Hospitalier de Valenciennes, Service d'anatomo-pathologie [Paris], Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Henri Mondor [Créteil], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)- Institut Fédératif de Recherche Bio-médicale Institution (IFR150)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), CHU Toulouse [Toulouse]-Hôpital des Enfants, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CH Evry-Corbeil, Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), and Hôpital Cochin [AP-HP]
Subjects: 0301 basic medicine, Immunoglobulin A, Adult, Male, medicine.medical_specialty, IgA Vasculitis, Urinary system, 030232 urology & nephrology, Antigen-Antibody Complex, Gastroenterology, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Prospective Studies, 10. No inequality, Prospective cohort study, ComputingMilieux_MISCELLANEOUS, Aged, Transplantation, Proteinuria, Nephritis, biology, business.industry, Middle Aged, medicine.disease, Prognosis, 3. Good health, 030104 developmental biology, IgA vasculitis, ROC Curve, Nephrology, biology.protein, Female, medicine.symptom, Vasculitis, business, Biomarkers, Systemic vasculitis, Glomerular Filtration Rate
Abstract: Background Henoch-Schonlein purpura, more recently renamed immunoglobulin A vasculitis (IgAV), is a systemic vasculitis characterized by IgA deposits. The current markers used to assess IgAV inaccurately evaluate the risk of nephritis occurrence and its long-term outcomes. The current study assessed biomarkers of nephritis outcomes. Methods This French multicentre prospective study enrolled 85 adult patients at the time of disease onset. Patients were assessed for clinical and biological parameters and re-examined after 1 year. Immunoglobulins, cytokines, IgA glycosylation, IgA complexes and neutrophil gelatinase-associated lipocalin (NGAL) concentrations were assessed in blood and urine. Results We identified 60 patients with IgAV-related nephritis (IgAV-N) and 25 patients without nephritis (IgAV-woN). At the time of inclusion (Day 1), the serum levels of galactose-deficient IgA1 (Gd-IgA1) and urinary concentrations of IgA, IgG, IgM, NGAL, interleukin (IL)-1β, IL-6, IL-8, IL-10, IgA-IgG and IgA-sCD89 complexes were higher in the IgAV-N patients than in the IgAV-woN patients (P
Published: 2017
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13. First-line rituximab combined with short-term prednisone versus prednisone alone for the treatment of pemphigus (Ritux 3): a prospective, multicentre, parallel-group, open-label randomised trial

Author: Catherine Prost-Squarcioni, Pierre Vabres, Philippe Bernard, Maud Maho-Vaillant, Estelle Houivet, Laurent Misery, Saskia Ingen-Housz-Oro, Sébastien Debarbieux, Alain Dupuy, Marie-Laure Golinski, P. Musette, Jean-David Bouaziz, Sophie Duvert-Lehembre, Pascal Joly, Laurent Machet, Nicolas Dupin, Denis Jullien, Frédéric Caux, Marie Beylot-Barry, Sébastien Calbo, Vivien Hébert, Martine Avenel-Audran, Bruno Sassolas, Carle Paul, Olivier Dereure, Gaëlle Quéreux, Emmanuel Delaporte, Jacques Benichou, Catherine Picard-Dahan, Nathalie Beneton, Bruno Labeille, Marie-Aleth Richard, Michel D'Incan, Christophe Bedane, Frédérique Caillot, Thomas Vermeulin, Marina Alexandre, Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Centre de référence sur les maladies bulleuses autoimmunes (Rouen), CHU Rouen, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de biostatistiques [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), University Hospital of St-Etienne, Department of Dermatology, Service de Dermatologie, Hôpital Bichat, AP-HP, Service de dermatologie (CHU de Toulouse), CHU Toulouse [Toulouse], Centre de Recherches en Oncologie biologique et Oncopharmacologie (CRO2), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Aix Marseille Université (AMU), Service de Dermatologie [AP-HP Hôpital Saint Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Service de dermatologie (CHU de Reims), Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Henri Mondor, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service de dermatologie (CHRU de Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de dermatologie [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Dermatologie [Rennes] = Dermatology [Rennes], CHU Pontchaillou [Rennes], Service de Dermatologie, Centre Hospitalier Sud, Hospices Civils, Lyon, Département de Dermatologie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de Dermatologie et Oncologie Cutanée [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de Dermatologie [CHU Limoges], CHU Limoges, Service de dermatologie [CH Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Service de dermatologie (Dermato - BREST), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de Dermatologie, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de dermatologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Service d'informatique biomédicale [Rouen], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Unité de biostatistiques [Rouen], Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7)-AP-HP Hôpital Saint-Louis, Service de Dermatologie [Rennes], Service de dermatologie et oncologie cutanée (CHU Clermont Ferrand), CHRU Clermont Ferrand, Service de dermatologie (CH Le Mans), Hôpital Trousseau (Tours), Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Centre Hospitalier Universitaire de Toulouse - CHU Toulouse (FRANCE), Centre de Recherches en Oncologie biologique et Oncopharmacologie ( CRO2 ), Aix Marseille Université ( AMU ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 ( UPD7 ) -AP-HP Hôpital Saint-Louis, Centre Hospitalier Universitaire de Reims ( CHU Reims ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Centre Hospitalier Universitaire d'Angers, CH Le Mans, Service de dermatologie ( Dermato - BREST ), Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Département de Médecine Interne et Pneumologie [Brest] ( DMIP - Brest ), Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Dermatologie [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM), Service Dermatologie [CHU Toulouse], Pôle Clinique des Voies respiratoires [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and CHU Henri Mondor [Créteil]
Subjects: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Prednisolone, Follow-Up, Vulgaris, law.invention, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Prednisone, law, Internal medicine, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Antineoplastic Combined Chemotherapy Protocols, medicine, Clinical endpoint, Humans, Corticosteroids, Disease, Prospective Studies, Prospective cohort study, Adjuvant, Aged, business.industry, Standard treatment, General Medicine, Middle Aged, Mycophenolate-Mofetil, medicine.disease, 3. Good health, Surgery, Pemphigus, Regimen, 030104 developmental biology, Treatment Outcome, Combination, Rituximab, Female, Therapy, business, Single-Cycle, Intensity Score Absis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: IF 44.002; International audience; Background High doses of corticosteroids are considered the standard treatment for pemphigus. Because long-term corticosteroid treatment can cause severe and even life-threatening side-effects in patients with this disease, we assessed whether first-line use of rituximab as adjuvant therapy could improve the proportion of patients achieving complete remission off-therapy, compared with corticosteroid treatment alone, while decreasing treatment side-effects of corticosteroids.Methods We did a prospective, multicentre, parallel-group, open-label, randomised trial in 25 dermatology hospital departments in France (Ritux 3). Eligible participants were patients with newly diagnosed pemphigus aged 18-80 years being treated for the first time (not at the time of a relapse). We randomly assigned participants (1: 1) to receive either oral prednisone alone, 1.0 or 1.5 mg/kg per day tapered over 12 or 18 months (prednisone alone group), or 1000 mg of intravenous rituximab on days 0 and 14, and 500 mg at months 12 and 18, combined with a short-term prednisone regimen, 0.5 or 1.0 mg/kg per day tapered over 3 or 6 months (rituximab plus short-term prednisone group). Follow-up was for 3 years (study visits were scheduled weekly during the first month of the study, then monthly until month 24, then an additional visit at month 36). Treatment was assigned through central computer-generated randomisation, with stratification according to disease-severity (severe or moderate, based on Harman's criteria). The primary endpoint was the proportion of patients who achieved complete remission off-therapy at month 24 (intention-to-treat analysis). This study is registered with ClinicalTrials.gov, number NCT00784589.Findings Between May 10, 2010, and Dec 7, 2012, we enrolled 91 patients and randomly assigned 90 to treatment (90 were analysed; 1 patient withdrew consent before the random assignment). At month 24, 41 (89%) of 46 patients assigned to rituximab plus short-term prednisone were in complete remission off-therapy versus 15 (34%) of 44 assigned to prednisone alone (absolute difference 55 percentage points, 95% CI 38.4-71.7; p
Published: 2017
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14. Plaque-Like Myofibroblastic Tumor

Author: Moulonguet, Isabelle, Biaggi, Annonciade, Eschard, Catherine, Durlach, Anne, Stock, Nathalie, Coussirat-Voreaux, Marie-France, Fraitag, Sylvie, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Reims (CHU Reims), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2017
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15. Travelers With Cutaneous Leishmaniasis Cured Without Systemic Therapy

Author: Max Grogl, Gloria Morizot, Eric Kendjo, E. Bourrat, Pierre Buffet, A. Pérignon, Laurence Lachaud, E. Laffitte, F. Cordoliani, Dominique Mazier, C. Ravel, Françoise Foulet, Marc Thellier, Oussama Mouri, N. Bodak, Eric Caumes, Muriel Vray, I. Alcaraz, Institut Pasteur [Paris], Service de parasitologie - mycologie [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], Service de parasitologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Service de dermatologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle ( MIVEGEC ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut de Recherche pour le Développement ( IRD [France-Sud] ), Epidémiologie des Maladies Emergentes, Conservatoire National des Arts et Métiers [CNAM] ( CNAM ) -Institut Pasteur [Paris]-Pasteur-Cnam risques infectieux et émergents ( PACRI ), Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] ( CNAM ), Immunité et Infection, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -IFR113-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Pasteur [Paris] (IP), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Biologie, Génétique et Pathologie des Pathogènes Eucaryotes (MIVEGEC-BioGEPPE), Pathogènes, Environnement, Santé Humaine (EPATH), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud])-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Epidémiologie des Maladies Emergentes - Emerging Diseases Epidemiology, Pasteur-Cnam Risques infectieux et émergents (PACRI), Institut Pasteur [Paris] (IP)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Institut Pasteur [Paris] (IP)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR113-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Institut de Recherche pour le Développement (IRD [France-Sud])-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Pasteur-Cnam risques infectieux et émergents (PACRI), Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] (CNAM), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR113-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Parasitologie - Mycologie [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Maladies Infectieuses et Tropicales [CHU Pitié-Salpêtrière], Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] (CNAM), and HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Institut Pasteur [Paris]-Conservatoire National des Arts et Métiers [CNAM] (CNAM)
Subjects: Male, Administration, Topical, Disease, Systemic therapy, Wound care, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, liposomal amphotericin B, 030212 general & internal medicine, Child, systemic antimony, Aged, 80 and over, Travel, education.field_of_study, Middle Aged, 3. Good health, [ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Treatment Outcome, Infectious Diseases, Child, Preschool, Female, miltefosine, medicine.drug, Adult, Microbiology (medical), medicine.medical_specialty, Adolescent, intralesional antimony, 030231 tropical medicine, Population, Antiprotozoal Agents, Leishmaniasis, Cutaneous, Young Adult, cutaneous leishmaniasis, 03 medical and health sciences, Cutaneous leishmaniasis, Internal medicine, medicine, Humans, education, Adverse effect, Aged, Miltefosine, business.industry, Infant, medicine.disease, Bandages, Comorbidity, Surgery, business
Abstract: (See the Editorial Commentary by Bailey on pages 381–3.) Background. Cutaneous leishmaniasis (CL) is a disfiguring but not life-threatening disease. Because antileishmanial drugs are potentially toxic, the World Health Organization (WHO) recommends simple wound care or local therapy as first-line treatment, followed or replaced by systemic therapy if local therapy fails or cannot be performed. Methods. To determine the feasibility and impact of the recommended approach, we analyzed the results of a centralized referral treatment program in 135 patients with parasitologically proven CL. Results. Infections involved 10 Leishmania species and were contracted in 29 different countries. Eighty-four of 135 patients (62%) were initially treated without systemic therapy. Of 109 patients with evaluable charts, 23 of 25 (92%) treated with simple wound care and 37 of 47 (79%) treated with local antileishmanial therapy were cured by days 42–60. In 37 patients with large or complex lesions, or preexisting morbidities, or who had not been cured with local therapy, the cure rate with systemic antileishmanial agents was 60%. Systemic adverse events were observed in 15 patients, all receiving systemic therapy. Conclusions. In this population of CL patients displaying variable degrees of complexity and severity, almost two-thirds of patients could be initially managed without systemic therapy. Of these, 60 were cured before day 60. The WHO-recommended stepwise approach favoring initial local therapy therefore resulted in at least 44% of all patients being cured without exposure to the risk of systemic adverse events. Efforts are needed to further simplify local therapy of CL and to improve the management of patients with complex lesions and/or preexisting comorbidities.
Published: 2013
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16. Evidence for a Multiclonal Origin of Multicentric Advanced Lesions of Kaposi Sarcoma

Author: Renan Duprez, Oumkaltoum Hbid, Antoine Gessain, Michel Huerre, Jean-Louis Essame Oyono, Patricia Tortevoye, Blaise Nkegoum, Marie-Jeanne Lando, Dominique Sainte-Marie, Josette Brière, Pierre Couppié, Eric Kassa-Kelembho, Céleste Lebbé, Vincent Lacoste, Camille Francès, Antoine Mahé, Epidémiologie et Physiopathologie des Virus Oncogènes, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Service d'anatomo-pathologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Dermatologie, Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur de Bangui, Réseau International des Instituts Pasteur (RIIP), Service de Médecine et d'Anatomopathologie, CHU de Yaoundé, Service d'Anatomopathologie, Centre Pasteur du Cameroun, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut Pasteur du Maroc, Institut d'Hygiène Sociale, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Histotechnologie et Pathologie, Institut Pasteur [Paris], Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Pasteur [Paris] (IP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hôpital de Cayenne, CHU Pitié-Salpêtrière [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Male, Cancer Research, Pathology, viruses, MESH: Aged, 80 and over, 0302 clinical medicine, MESH: Child, Gammaherpesvirinae, Child, Lymph node, Skin, Aged, 80 and over, MESH: Aged, 0303 health sciences, MESH: Middle Aged, medicine.diagnostic_test, Middle Aged, Viral Load, 3. Good health, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Herpesvirus 8, Human, Monoclonal, Female, Sarcoma, MESH: Viral Load, Viral load, Adult, medicine.medical_specialty, Adolescent, Biology, 03 medical and health sciences, MESH: Skin, Biopsy, medicine, Humans, Sarcoma, Kaposi, Aged, 030304 developmental biology, MESH: Adolescent, MESH: Herpesvirus 8, Human, MESH: Humans, MESH: Clone Cells, Cancer, MESH: Adult, medicine.disease, biology.organism_classification, MESH: Male, Clone Cells, MESH: DNA, Viral, Tonsil, DNA, Viral, MESH: Sarcoma, Kaposi, MESH: Female
Abstract: International audience; BACKGROUND: Kaposi sarcoma (KS) is a complex tumor of uncertain clonality. Studying the viral clonality of the human herpesvirus 8 (HHV-8) in KS to determine clonality of the tumors, a strategy that has been used previously with Epstein-Barr virus and its associated tumors, may elucidate whether multicentric (disseminated) KS lesions correspond to metastatic lesions or to expansions of independent clones. METHODS: A series of 139 KS biopsies (from skin, lymph node, or tonsil) was obtained from 98 patients, with 59 biopsies from 18 patients with disseminated multicentric KS skin lesions. The degree of spindle cell infiltration in biopsies was established by direct observation of hematoxylin-eosin-stained sections, and HHV-8 viral load was quantified by real-time polymerase chain reaction. To determine cellular clonality, the size heterogeneity of the HHV-8-fused terminal repeat (TR) region was determined by probing of electrophoresed restricted genomic DNA from KS biopsies for the HHV-8 TR sequence. RESULTS: HHV-8 clonality analysis was performed on the 62 samples for which sufficient DNA was obtained. Most samples corresponded to histologically nodular lesions with high spindle cell infiltration and high viral load. A clonal HHV-8 pattern was determined for 59 samples; 11 were found to be monoclonal and 48 to be oligoclonal. The informative samples that were from disseminated KS skin lesions (n = 26, from six patients) were either monoclonal or oligoclonal, and the size of HHV-8 episomes varied between these samples. CONCLUSION: Although some tumor KS lesions were monoclonal expansions of HHV-8-infected spindle cells, most advanced lesions were oligoclonal proliferations. Furthermore, individual KS disseminated tumor skin lesions were found to represent distinct expansions of HHV-8-infected spindle cells. Thus, our results suggest that KS lesions, especially in patients with advanced skin tumors, are reactive proliferations rather than true malignancies with metastatic dissemination.
Published: 2007
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17. Early-Onset Atopic Dermatitis in Children: Which Are the Phenotypes at Risk of Asthma? Results from the ORCA Cohort

Author: Amat, Flore, Saint-Pierre, Philippe, Bourrat, Emmanuelle, Nemni, Ariane, Couderc, Rémy, Boutmy-Deslandes, Emmanuelle, Sahraoui, Fatiha, Pansé, Isabelle, Bagot, Martine, Fouéré, Sébastien, Just, Jocelyne, Chatenoud, Lucienne, Service d'Allergologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Sorbonne Université, Laboratoire de Statistique Théorique et Appliquée (LSTA), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], Biostatistique et épidemiologie clinique, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de l'Asthme et des Allergies [CHU Trousseau], Department of dermatology, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Centre de l'Asthme et des Allergies, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Tolérance immunitaire et présentation antigénique: impact en auto-immunité et en transplantation, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], CHU Necker - Enfants Malades [AP-HP]-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: [STAT.AP]Statistics [stat]/Applications [stat.AP], [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2015

18. A Spontaneous KRT16 Mutation in a Dog Breed: A Model for Human Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK)

Author: Emmanuel Bensignor, Alain Fautrel, Pascale Bellaud, Frédérique Degorce-Rubiales, Catherine André, Caroline Dufaure de Citres, Éric Guaguère, Jocelyn Plassais, Amaury Vaysse, Guillaume Queney, Pascale Quignon, Christophe Hitte, Céline Bleuart, Anne-Sophie Guillory, Anne Thomas, Emmanuelle Bourrat, Maxence Delverdier, Laetitia Lagoutte, Cécile Kaerle, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Clinique Vétérinaire Saint Bernard, Laboratoire d'Anatomie Pathologique Vétérinaire du Sud-Ouest, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-IFR140-Centre National de la Recherche Scientifique (CNRS), Cancer Genetics Branch, National Institute of Health (NIH)-National Human Genome Research Institute (NHGRI), Animal Genetics Laboratory, Antagene, Foie, métabolismes et cancer, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Plate-forme d'histopathologie, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-IFR140, Clinique Vétérinaire de la Boulais, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Keratoderma, Palmoplantar, Diffuse, Male, 040301 veterinary sciences, [SDV]Life Sciences [q-bio], Dermatology, Biology, Keratin 16, Real-Time Polymerase Chain Reaction, Biochemistry, 0403 veterinary science, Immunoenzyme Techniques, 03 medical and health sciences, Exon, Focal Non-Epidermolytic Palmoplantar Keratoderma, Dogs, Species Specificity, medicine, Animals, Humans, RNA, Messenger, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Papilloma, Keratin-16, 04 agricultural and veterinary sciences, Exons, Cell Biology, medicine.disease, Molecular biology, Immunohistochemistry, Breed, Disease Models, Animal, Real-time polymerase chain reaction, Microscopy, Fluorescence, Mutation (genetic algorithm), Mutation, Female
Abstract: International audience
Published: 2015
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19. Natural history of allergic sensitization in infants with early-onset atopic 1 dermatitis: results from ORCA Study

Author: Just, Jocelyne, Deslandes-Boutmy, Emmanuelle, Amat, Flore, Desseaux, Kristell, Nemni, Ariane, Bourrat, Emmanuelle, Sahraoui, Fatia, Pansé, Isabelle, Bagot, Martine, Fouéré, Sébastien, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de biostatistique et d'informatique médicale, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Saint-Louis, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Administateur, HAL Sorbonne Université
Subjects: inhaled allergens, food allergens, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, atopic dermatitis, phenotypes, cohort, respiratory system, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, [SDV.IMM.ALL] Life Sciences [q-bio]/Immunology/Allergology, sensitization, respiratory tract diseases
Abstract: International audience; BACKGROUND: Early-onset atopic dermatitis (AD) is a particular phenotype that may convey a risk of developing multiple sensitizations to allergens but little is known about the pathway of sensitization. The aims of this study were to describe the natural history of sensitization to allergens for this phenotype and to identify the most predictive marker associated with the risk of developing sensitization to inhaled allergens in a well-selected cohort of infants with AD.METHODS: Infants with active AD were enrolled and prospectively explored for biological markers of atopy every year until the age of 6 yr. Allergic sensitization was defined as the presence of positive specific IgEs to allergens and multiple sensitizations as being sensitized to ≥2 allergens. Elevated blood eosinophilia was defined as an eosinophil blood count ≥470 eosinophils/mm3 and elevated total IgE as a serum IgE level ≥45 kU/l.RESULTS: Two hundred and twenty-nine infants were included. Elevated blood eosinophilia was observed at baseline in 60 children (26.2%) and elevated total IgE in 85 (37.1%). When elevated at baseline, eosinophilia and IgE levels remained significantly higher during the follow-up period. Sensitization to food allergens decreased from 58% to 34%, whereas sensitization to inhaled allergens increased over time from 17% to 67%. Initial multiple sensitizations to food allergens were the most predictive factor for the risk of developing sensitization to inhaled allergens at 6 yr (OR 3.72 [1.68-8.30] p < 0.001).CONCLUSIONS: In the early-onset AD phenotype, multiple sensitization to food allergens conveys a higher risk of sensitization to inhaled allergens than single sensitization.
Published: 2014
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20. Syringotropic mycosis fungoides: Clinical and histologic features, response to treatment, and outcome in 19 patients

Author: Jean-David Bouaziz, F. Mouly, François Le Gall, Adèle de Masson, Antoine Petit, Anne Saussine, Alexiane Dallot, Pascal Joly, Jacqueline Rivet, Marie-Dominique Vignon-Pennamen, Martine Bagot, Philippe Assouly, Olivier Dereure, S. Ronceray, Alain Dupuy, Anne Janin, Isabelle Moulonguet, Maxime Battistella, Bénédicte Cavelier-Balloy, Michel Rybojad, Caroline Ram-Wolff, Céleste Lebbé, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Immunologie, dermatologie, oncologie, Oncodermatologie, immunologie et cellules souches cutanées (IDO (U976 / UMR_S 976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service d'anatomo-pathologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de Dermatologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de Dermatologie [Aulnay-sous-Bois], Hôpital Robert Ballanger [Aulnay-sous-Bois], Service de Dermatologie [Rennes], CHU Pontchaillou [Rennes], Gvh et Gvl : Physiopathologie Chez l'Homme et Chez l'Animal, Incidence et Role Therapeutique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen], Service de Dermatologie [Rennes] = Dermatology [Rennes], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Hôpital Charles Nicolle [Rouen], and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen
Subjects: Adult, Male, medicine.medical_specialty, Skin Neoplasms, Dermatology, Syringotropic mycosis fungoides, Eccrine Glands, Tropism, Lymphocytic Infiltrate, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Mycosis Fungoides, Follicular phase, medicine, Humans, Lymphocytes, Aged, Retrospective Studies, Aged, 80 and over, Mycosis fungoides, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Cutaneous T-cell lymphoma, Retrospective cohort study, Alopecia, Middle Aged, medicine.disease, Confidence interval, 3. Good health, Natural history, Survival Rate, Treatment Outcome, 030220 oncology & carcinogenesis, Female, business, Hair Follicle
Abstract: International audience; BACKGROUND: A rare variant of mycosis fungoides (MF), syringotropic MF (STMF) is characterized by a particular tropism of the lymphocytic infiltrate for the eccrine structures, and included in the follicular subtype of MF in the World Health Organization-European Organization for Research and Treatment of Cancer classification of cutaneous lymphomas. OBJECTIVE: We sought to determine the clinicopathologic features and disease course of patients with STMF. METHODS: A retrospective study was conducted to identify patients with STMF from 1998 to 2013. RESULTS: Nineteen patients were included: 15 men and 4 women, mean age 55 years (range, 24-86). Most had multiple lesions (n = 16, 84%) with associated alopecia (n = 12, 63%) and/or punctuated aspect (n = 12, 63%). Palms or soles were involved in 10 cases (53%). Folliculotropism was found in 13 cases (68%). After a median follow-up of 70 months (range, 2-140), 3 patients died, 1 from disease-related death. The 5-year overall and disease-specific survival were 100%. The disease-specific survival was significantly higher than in 54 patients with folliculotropic MF without syringotropism (5-year disease-specific survival, 74%; 95% confidence interval, 58%-94%, P = .02). LIMITATIONS: Retrospective setting is a limitation. CONCLUSIONS: In the spectrum of adnexotropic MF, STMF appears as a distinct entity from follicular MF, with peculiar clinical characteristics and natural history.
Published: 2014
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21. [Sclerodermatous changes in porphyria cutanea tarda: six cases]

Author: Khayat, R., Dupuy, A., Pansé, I., Bagot, M., Cordoliani, F., Centre Hospitalier Universitaire [Rennes], Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Porphyria Cutanea Tarda, integumentary system, Liver Diseases, [SDV]Life Sciences [q-bio], Systemic, Hypertrichosis, Alopecia, Middle Aged, Localized, Scleroderma, Alcoholism, Phlebotomy, Adrenal Cortex Hormones, Hyperpigmentation, Recurrence, Diagnosis, Differential, Humans, Female, Uroporphyrins, skin and connective tissue diseases, Aged, Hydroxychloroquine, Retrospective Studies, Skin
Abstract: International audience; BACKGROUND: The clinical features of porphyria cutanea tarda (PCT) are usually distinctive and include blistering on sun-exposed areas, fragile skin, hypertrichosis and hyperpigmentation. Sclerodermatous changes are much less common, and may either reveal PCT or else appear later. We carried out a retrospective study of the files of six female patients presenting such lesions. PATIENTS AND METHODS: Six women (age: 45 to 72 years) were referred for sclerodermatous lesions on sun-exposed areas of the upper body. In four patients, these lesions revealed PCT and in the remaining two patients they were indicative of previously treated but relapsing PCT. Four had sclerodermatous skin changes mimicking morphea of the neck and neckline, the top of the back and the face, while one presented more diffuse facial and cervical sclerosis. Associated alopecia was seen in three patients. The last patient presented isolated sclerodermiform alopecia. Associated malar hypertrichosis was seen in five cases and facial hyperpigmentation was noted in three cases. Four exhibited no blisters, cutaneous fragility, milia or photosensitivity. Histological findings were consistent with morphea or scleroderma in all cases. All patients presented abnormal liver tests: cirrhosis was present in four cases (primitive biliary cirrhosis, alcoholic cirrhosis and hepatitis C) and fatty liver in two cases. In four cases, there was excessive alcohol intake. Uroporphyrin levels were above the normal range in all cases. Local corticosteroid therapy associated with phlebotomy and/or low-dose hydroxychloroquine resulted in complete normalisation of porphyrin levels in four patients, with complete resolution of the cutaneous lesions in two patients and partial improvement in the other two. DISCUSSION: Sclerodermatous changes are uncommon in PCT. They are not always late and secondary to the process of healing of blisters but can in fact constitute the first cutaneous symptom of the disease while revealing the underlying liver disease. Even in the absence of blisters, photosensitivity or cutaneous fragility, a diagnosis of PCT must be suspected in a setting of sclerodermatous changes distributed on the neck and face, or the neckline, or scarring alopecia, if associated with abnormal liver tests. Skin biopsy to confirm the diagnosis of scleroderma may delay the diagnosis, which is in fact based on porphyrin level. Normalization of the latter parameter under treatment allows regression of lesions.
Published: 2013
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22. Automatic 3D segmentation of multiphoton images: a key step for the quantification of human skin

Author: Ana-Maria Pena, Emmanuelle Tancrède-Bohin, Etienne Decencière, Petr Dokládal, Serge Koudoro, Thérèse Baldeweck, Centre de Morphologie Mathématique (CMM), MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL), L'Oréal recherche et innovation, L'Oréal, L'Oréal Recherche France (L'Oréal Recherche), L'OREAL, MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Male, skin, Adolescent, Computer science, Image processing, Human skin, Dermoscopy, MESH: multiphoton, 01 natural sciences, Sensitivity and Specificity, Pattern Recognition, Automated, 010309 optics, MESH: microscopy, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Imaging, Three-Dimensional, Cut, 3d segmentation, 0103 physical sciences, Image Interpretation, Computer-Assisted, 3D image segmentation, Humans, Segmentation, Computer vision, MESH: dermatology, integumentary system, business.industry, Reproducibility of Results, Middle Aged, dermatology, Multiphoton fluorescence microscope, Microscopy, Fluorescence, Multiphoton, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Pattern recognition (psychology), multiphoton microscopy, Key (cryptography), [SPI.OPTI]Engineering Sciences [physics]/Optics / Photonic, Female, Artificial intelligence, business, Algorithms, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract: Background/purpose Multiphoton microscopy has emerged in the past decade as a useful noninvasive imaging technique for in vivo human skin characterization. However, it has not been used until now in evaluation clinical trials, mainly because of the lack of specific image processing tools that would allow the investigator to extract pertinent quantitative three-dimensional (3D) information from the different skin components. Methods We propose a 3D automatic segmentation method of multiphoton images which is a key step for epidermis and dermis quantification. This method, based on the morphological watershed and graph cuts algorithms, takes into account the real shape of the skin surface and of the dermal–epidermal junction, and allows separating in 3D the epidermis and the superficial dermis. Results The automatic segmentation method and the associated quantitative measurements have been developed and validated on a clinical database designed for aging characterization. The segmentation achieves its goals for epidermis–dermis separation and allows quantitative measurements inside the different skin compartments with sufficient relevance. Conclusions This study shows that multiphoton microscopy associated with specific image processing tools provides access to new quantitative measurements on the various skin components. The proposed 3D automatic segmentation method will contribute to build a powerful tool for characterizing human skin condition. To our knowledge, this is the first 3D approach to the segmentation and quantification of these original images.
Published: 2013
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23. Autosomal Recessive Ichthyosis in Golden Retriever Dogs: Distribution and Frequency of the Pnpla1 Mutant Allele in Different Populations (chap 11)

Author: Guaguere, E., Thomas, A., Grall, A., Bourrat, E., Lagoutte, L., Degorce-Rubiales, F., Hitte, C., Bensignor, E., Fontaine, Julien, Pin, Didier, Queney, G., André, C., Clinique Vétérinaire Saint Bernard, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Laboratoire d'Anatomie Pathologique Vétérinaire du Sud-Ouest, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-IFR140-Centre National de la Recherche Scientifique (CNRS), Clinique Vétérinaire de la Boulais, S. M. F. Torres, L. A. Frank and A. M. Hargis (eds.), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2013
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24. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Author: Bert Callewaert, Marjolijn Renard, Paul Coucke, Valerie Layet, Emmanuelle Bourrat, Fransiska Malfait, Deborah Bartholdi, Astrid S. Plomp, Christine Bodemer, Anne De Paepe, Marlies Kempers, Smail Hadj-Rabia, Julie De Backer, Olivier Vanakker, BMC, Ed., Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de référence national des Maladies Génétiques à Expression Cutanée - National Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Center for Medical Genetics [Ghent], Ghent University Hospital, Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Radboud University Medical Center [Nijmegen], Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Service de génétique médicale, GH Le Havre, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), This work was supported by a Methusalem grant to ADP (BOF 08/01M01108 from the Ghent University and Flemish Government) providing funding to perform the molecular analysis. JDB is a senior clinical investigator and BC and FM are postdoctoral research fellows of the Fund for Scientific Research - Flanders. OV has a BOF research fellowship from the Ghent University. We are indebted to the families involved in this study as well as to REEL ( Réseau élastique), a French collaboration network on inherited diseases of the elastic fibers, that supports research by providing logistic support in patient assembly, evaluation and sample gathering and that supports patients in daily life., Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Human Genetics, Paediatric Genetics, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre de référence national des Maladies Génétiques à Expression Cutanée ( MAGEC ), CHU Necker - Enfants Malades [AP-HP]-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Academic Medical Center [Amsterdam] ( AMC ), University of Amsterdam [Amsterdam] ( UvA ), University of Zürich [Zürich] ( UZH ), University of Zurich, and Hadj-Rabia, Smail
Subjects: Male, Proband, Pathology, 10039 Institute of Medical Genetics, Hernia, Inguinal, [SDV.GEN] Life Sciences [q-bio]/Genetics, Gene mutation, Severity of Illness Index, DISEASE, Cutis Laxa, Autosomal dominant cutis laxa, Exon, 0302 clinical medicine, Medicine and Health Sciences, 2736 Pharmacology (medical), Genetics(clinical), Pharmacology (medical), Frameshift Mutation, MUTATION, Genetics (clinical), Genes, Dominant, Skin, Genetics, Medicine(all), 0303 health sciences, biology, Exons, General Medicine, 3. Good health, Phenotype, Pulmonary Emphysema, C-TERMINAL EXTENSION, Female, FORM, 2716 Genetics (clinical), medicine.medical_specialty, Genotype, ELASTIN GENE, 610 Medicine & health, Frameshift mutation, 03 medical and health sciences, PROCOLLAGEN, medicine, Humans, TROPOELASTIN, Hernia, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Research, DEGRADATION, medicine.disease, Elastin, Ehlers–Danlos syndrome, DERMATOSPARAXIS, biology.protein, 570 Life sciences, ELN, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, business, EHLERS-DANLOS-SYNDROME, 030217 neurology & neurosurgery, Cutis laxa
Abstract: International audience; ABSTRACT: BACKGROUND: Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported. METHODS: We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient. RESULTS: Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). This cohort confirms the previously reported clinical constellation of skin laxity (100%), inguinal hernias (51%), aortic root dilatation (55%) and emphysema (37%). CONCLUSION: ADCL is a clinically and molecularly homogeneous disorder, but intra- and interfamilial variability in the severity of organ involvement needs to be taken into account. Regular cardiovascular and pulmonary evaluations are imperative in the clinical follow-up of these patients.
Published: 2013
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25. In vivo multiphoton microscopy associated to 3D image processing for human skin characterization

Author: Vincent Morard, Petr Dokládal, Fernand Meyer, Ana-Maria Pena, Thérèse Baldeweck, Serge Koudoro, E. Tancrède, Etienne Decencière, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Morphologie Mathématique (CMM), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), and MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL)
Subjects: Materials science, integumentary system, Nanotechnology, Image processing, Human skin, 02 engineering and technology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 021001 nanoscience & nanotechnology, Characterization (materials science), Skin Aging, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Dermis, In vivo, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Medical imaging, medicine, Epidermis, sense organs, 0210 nano-technology, Biomedical engineering
Abstract: International audience; Multiphoton microscopy has emerged in the past decade as a promising non-invasive skin imaging technique. The aim of this study was to assess whether multiphoton microscopy coupled to specific 3D image processing tools could provide new insights into the organization of different skin components and their age-related changes. For that purpose, we performed a clinical trial on 15 young and 15 aged human female volunteers on the ventral and dorsal side of the forearm using the DermaInspectR medical imaging device. We visualized the skin by taking advantage of intrinsic multiphoton signals from cells, elastic and collagen fibers. We also developed 3D image processing algorithms adapted to in vivo multiphoton images of human skin in order to extract quantitative parameters in each layer of the skin (epidermis and superficial dermis). The results show that in vivo multiphoton microscopy is able to evidence several skin alterations due to skin aging: morphological changes in the epidermis and modifications in the quantity and organization of the collagen and elastic fibers network. In conclusion, the association of multiphoton microscopy with specific image processing allows the three-dimensional organization of skin components to be visualized and quantified thus providing a powerful tool for cosmetic and dermatological investigations.
Published: 2012
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26. Objectivation des modifications cutanées cortico-induites en fonction de l'âge

Author: Emmanuelle Tancrède-Bohin, Thérèse Baldeweck, Ana-Maria Pena, N Parent, M Carpentier-Chéraud, Etienne Decencière, L'Oréal recherche et innovation, L'Oréal, Centre de Morphologie Mathématique (CMM), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Microscopie multiphoton, Dermatology, Corticothérapie, Imagerie non invasive
Abstract: Hors-Série 3 - Journées dermatologiques de Paris 2012; National audience
Published: 2012
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27. Objectivation des modifications cutanées liées au vieillissement par une technique d'imagerie non invasive de la peau : la microscopie multiphoton in vivo

Author: Etienne Decencière, Thérèse Baldeweck, Ana-Maria Pena, Emmanuelle Tancrède-Bohin, L'Oréal recherche et innovation, L'Oréal, Centre de Morphologie Mathématique (CMM), MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Vieillissement cutané, Microscopie multiphoton, Dermatology, 3. Good health, Imagerie non invasive
Abstract: Hors-Série 3 - Journées dermatologiques de Paris 2012; National audience
Published: 2012
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28. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Author: Anais Grall, Céline Derbois, Matthieu Le Gallo, Ingrid Hausser, Laetitia Lagoutte, Sébastien Küry, Judith Fischer, Catherine André, Emmanuelle Bourrat, Emmanuel Bensignor, Sandrine Planchais, Franz P.W. Radner, Éric Guaguère, Francis Galibert, Rudolf Zechner, Susanne Grond, Jacques Fontaine, Robert Zimmermann, Gwang-Jin Kim, Mark Lathrop, Frédérique Degorce-Rubiales, Anne Thomas, Didier Pin, Christophe Hitte, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Clinique Vétérinaire Saint Bernard, Institute of Molecular Biosciences, Karl-Franzens-Universität Graz, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of dermatology, University clinic Heidelberg, Electron Microscopy Core Facility, Universität Heidelberg [Heidelberg], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Génomique d'Evry (IG), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institute for Human Genetics, University Clinic Freiburg, Faculty for Biology, University of Freiburg [Freiburg], Laboratoire d'Anatomie Pathologique Vétérinaire du Sud-Ouest, Animal Genetics Laboratory, Antagene, Service d'ORL et de Chirurgie Cervicofaciale, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique Vétérinaire de la Boulais, Clinique vétérinaire, Clinique vétérinaire, Bruxelles, Interactions Cellules Environnement - UR (ICE), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Centre d'Etude du Polymorphisme Humain (CEPH), Université Paris Diderot - Paris 7 (UPD7)-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset, Zentrum für Biosystemanalyse, Albert-Ludwigs-Universität Freiburg, This study was supported by CNRS, the European Commission (FP7-LUPA, GA-201370). R. Zechner and R. Zimmermann were supported by the FWF F30 SFB Lipotox, Z136 Wittgenstein, the GEN-AU project GOLD by the Austrian Ministry of Science and Research and FFG. I.H. was supported by the NIRK Network (German BMBF 01GM0904)., European Project: 201370,EC:FP7:HEALTH,FP7-HEALTH-2007-A,LUPA(2008), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Institut de Génomique d'Evry ( IG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Saclay, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Trousseau [APHP], Unité de Dermatologie, VetAgro Sup ( VAS ), Centre d'Etude du Polymorphisme Humain ( CEPH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut Universitaire d'Hématologie ( IUH ), Université Paris Diderot - Paris 7 ( UPD7 ) -Fondation Jean Dausset, European Project : 201370,EC:FP7:HEALTH,FP7-HEALTH-2007-A,LUPA ( 2008 ), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Heidelberg [Heidelberg] = Heidelberg University, Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), De Villemeur, Hervé, and Unravelling the molecular basis of common complex human disorders using the dog as a model system - LUPA - - EC:FP7:HEALTH2008-01-01 - 2012-06-30 - 201370 - VALID
Subjects: Male, MESH : Molecular Sequence Data, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Base Sequence, medicine.disease_cause, 0403 veterinary science, MESH: Dogs, MESH: INDEL Mutation, MESH: Lipase, MESH : Dogs, INDEL Mutation, Congenital ichthyosis, Missense mutation, MESH : Female, MESH: Animals, MESH: Codon, Nonsense, Cells, Cultured, Skin, Genetics, 0303 health sciences, Mutation, 04 agricultural and veterinary sciences, Lamellar ichthyosis, MESH : Adult, MESH : Lipase, MESH : Dermatologic Agents, MESH : Codon, Nonsense, MESH: Ichthyosis, Lamellar, Codon, Nonsense, Female, MESH : Genome-Wide Association Study, MESH: Cells, Cultured, Adult, 040301 veterinary sciences, MESH : Male, Nonsense mutation, Molecular Sequence Data, Mutation, Missense, ALOX12B, Golden Retriever, Genes, Recessive, MESH: Nitrendipine, Biology, 03 medical and health sciences, Dogs, MESH: Skin, MESH : Cells, Cultured, medicine, MESH : Skin, Animals, Humans, Indel, MESH : INDEL Mutation, MESH: Genes, Recessive, 030304 developmental biology, MESH: Mutation, Missense, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Nitrendipine, MESH : Humans, MESH : Ichthyosis, Lamellar, MESH : Genes, Recessive, MESH: Adult, Lipase, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, medicine.disease, MESH : Nitrendipine, MESH: Male, MESH: Dermatologic Agents, MESH: Genome-Wide Association Study, MESH : Base Sequence, MESH : Animals, Dermatologic Agents, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, [ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology, MESH: Female, MESH : Mutation, Missense, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Ichthyosis, Lamellar, Genome-Wide Association Study
Abstract: International audience; Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family.
Published: 2011
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29. Histopathologic diagnosis of lymphomatous versus inflammatory erythroderma: a morphologic and phenotypic study on 47 skin biopsies

Author: Ram-Wolff, Caroline, Martin-Garcia, Nadine, Bensussan, Armand, Bagot, Martine, Ortonne, Nicolas, Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Immunologie, dermatologie, oncologie, Oncodermatologie, immunologie et cellules souches cutanées (IDO (U976 / UMR_S 976)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: MESH: Immunophenotyping, MESH: Antigens, CD3, MESH: Dermatitis, Exfoliative, MESH: Paraffin Embedding, MESH: beta Catenin, ß-catenin, MESH: Phenotype, JunB, MESH: Biopsy, MESH: Aged, 80 and over, MESH: Skin, MESH: Diagnosis, Differential, hemic and lymphatic diseases, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Dermatitis, MESH: Aged, MESH: Psoriasis, MESH: Humans, MESH: Middle Aged, integumentary system, MESH: Proto-Oncogene Proteins c-jun, erythroderma, MESH: Skin Neoplasms, MESH: Adult, MESH: Retrospective Studies, MESH: Male, MESH: Predictive Value of Tests, MESH: France, MESH: Eczema, Sézary syndrome, CD30, MESH: Sezary Syndrome, histopathology, MESH: Drug Eruptions, MESH: Lymphocytes, MESH: Antigens, CD8, MESH: Female
Abstract: International audience; Erythroderma may be secondary to a cutaneous T-cell lymphoma (CTCL) and various other erythrodermic inflammatory dermatoses (EID), and their histopathologic distinction is often difficult. The aim of this study was to determine if morphological parameters, namely: the presence of b-catenin, and JunB (previously shown to be expressed by CTCL cells), the epidermal CD8:CD3 ratio, and CD30 expression may help in the histopathologic diagnosis of erythroderma, especially in differentiating CTCL and EID. We retrospectively reviewed a series of 47 skin biopsies from patients with erythroderma (18 CTCL and 29 EID). The diagnosis of each case was established using clinical, biological and histopathologic data. After a blind assessment of the hematoxylin--eosin--safran stained slides, a correct diagnosis of the underlying cause of erythroderma was made only in 31% of cases. A correct differential diagnosis between lymphoma and EID was done with certainty in 57% of cases. Various morphologic and phenotypic parameters were then recorded and we compared their frequency in the CTCL versus the EID group. With the exception of atypical lymphocytes, the moderate to high density of dermal infiltrates and Pautrier microabcesses, only found in CTCL, no morphologic parameter was found to be specific of CTCL, although single lymphocytes epidermotropism, telangiectasias, and slight lymphocytic dermal infiltrate were significantly more frequent in EID. A low (
Published: 2010
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30. Atypical presentation of adult T-cell leukaemia/lymphoma due to HTLV-1: prurigo nodularis lasting twelve years followed by an acute micropapular eruption

Author: Olivier Cassar, Antoine Petit, Isabelle Moulonguet, Jacqueline Rivet, Antoine Gessain, Daniel Wallach, Félix Agbalika, Arnaud Duval, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'anatomo-pathologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Epidémiologie et Physiopathologie des Virus Oncogènes, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Service de Virologie, Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service de Dermatologie, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), and CHU Cochin [AP-HP]
Subjects: CD4-Positive T-Lymphocytes, Male, Pathology, MESH: Anemia, Refractory, with Excess of Blasts, Time Factors, Biopsy, MESH: Interleukin-2 Receptor alpha Subunit, Serology, 030207 dermatology & venereal diseases, MESH: Biopsy, 0302 clinical medicine, immune system diseases, hemic and lymphatic diseases, Medicine, Leukemia-Lymphoma, Adult T-Cell, MESH: Leukemia-Lymphoma, Adult T-Cell, Skin, MESH: Treatment Outcome, 0303 health sciences, Human T-lymphotropic virus 1, MESH: Middle Aged, MESH: CD4-Positive T-Lymphocytes, MESH: Zidovudine, General Medicine, Middle Aged, Recombinant Proteins, 3. Good health, Leukemia, Treatment Outcome, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Monoclonal, Viral disease, Zidovudine, MESH: Interferon Alfa-2a, MESH: Antiviral Agents, medicine.medical_specialty, MESH: Prurigo, Antineoplastic Agents, Dermatology, Interferon alpha-2, Antiviral Agents, Adult T-cell leukemia/lymphoma, 03 medical and health sciences, MESH: Skin, Prurigo, Humans, 030304 developmental biology, Anemia, Refractory, with Excess of Blasts, MESH: Human T-lymphotropic virus 1, MESH: Humans, business.industry, MESH: Time Factors, Interleukin-2 Receptor alpha Subunit, Interferon-alpha, medicine.disease, MESH: Male, Lymphoma, MESH: Antineoplastic Agents, business, Prurigo nodularis
Abstract: International audience; Prurigo nodularis is a pruritic dermatosis of unknown origin. Human T-cell lymphotropic virus type 1 (HTLV-1) causes adult T-cell leukaemia/lymphoma. HTLV-1 is not considered to be a cause of prurigo nodularis. A 52-year-old black man, from the French West Indies, who had had prurigo nodularis for 12 years, presented with a distinct micropapular eruption with the typical pathological picture of epidermotropic T-cell lymphoma. Based on HTLV-1-positive serology and monoclonal integration of HTLV-1 we diagnosed smouldering adult T-cell leukaemia/lymphoma. Re-examination of previous skin biopsies revealed that the disease had been evolving for 12 years. Treatment with alpha-interferon, 3 x 106 units three times a week, associated with zidovudine, 1 g daily, resulted in complete remission within 4 months. When investigating a prurigo nodularis, we therefore recommend: (i) performing HTLV-1 serology if the patient comes from an endemic area; (ii) if positive, performing CD25 staining and looking for a HTLV-1 clonal integration; and (iii) if positive, using a treatment targeting HTLV-1.
Published: 2010
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31. Psoriasis: characterization of six different clinical phenotypes

Author: Marc Perrussel, Nejib Doss, Julie Latreille, Christiane Guinot, Louis Dubertret, CENTRE DE RECHERCHES ET D'INVESTIGATIONS EPIDERMIQUES ET SENSORIELLES (CERIES), CERIES, Université de Tours (UT), Centre d'enseignement Cnam Paris (CNAM Paris), Conservatoire National des Arts et Métiers [CNAM] (CNAM), Department of Dermatology, Military Hospital of Tunis, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Tours, and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Adult, Male, medicine.medical_specialty, Multivariate analysis, [SDV]Life Sciences [q-bio], Dermatology, Bioinformatics, Biochemistry, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Psoriasis, Surveys and Questionnaires, Medicine, Cluster Analysis, Humans, Prospective Studies, Age of Onset, Clinical phenotype, Prospective cohort study, Molecular Biology, Disease entity, Models, Genetic, business.industry, Middle Aged, medicine.disease, Phenotype, 3. Good health, 030220 oncology & carcinogenesis, Multivariate Analysis, Female, Age of onset, business
Abstract: International audience; Until recently, psoriasis was considered as a single disease entity. However, the discovery of major differences between early- or late-onset psoriasis suggests the presence of distinct disease phenotypes which may differ in their pathophysiology and in their treatment responsiveness. The objective of this study was to use exploratory data analysis methods to identify potential clinical psoriasis phenotypes without a priori hypotheses. A prospective questionnaire-based survey collected comprehensive informations on the main clinical characteristics of 1484 psoriatic patients. Six statistically different clusters of clinical symptoms were observed, corresponding at least to six different clinical psoriasis phenotypes. Moreover, discriminant functions allow patients to be assigned to one or other of these phenotypes. Our findings open the way to focus genetic, pharmaco-genetic, pathophysiological and therapeutic studies on more homogenous group of patients.
Published: 2009
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32. Comparative study of stress and quality of life in outpatients consulting for different dermatoses in 5 academic departments of dermatology

Author: Misery, Laurent, Thomas, Luc, Jullien, Denis, Cambazard, Frédéric, Humbert, Philippe, Dubertret, Louis, Dehen, Laure, Macy, Guy, Boussetta, Sami, Taieb, Charles, Service de dermatologie, Hôpital Augustin Morvan-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hospices Civils de Lyon (HCL)-Hôtel-Dieu, CHU Saint-Etienne, Département de dermatologie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoires dermatologiques Ducray, Pierre Fabre S.A, PIERRE FABRE, Saas, Philippe, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Hôpital Saint-Jacques-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC)
Subjects: Adult, Male, MESH: Aged, MESH: Humans, MESH: Middle Aged, MESH: Quality of Life, MESH: Adult, MESH: Skin Diseases, MESH: Stress, Psychological, [SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/Dermatology, Middle Aged, Skin Diseases, MESH: Male, Quality of Life, Humans, Female, MESH: Female, Stress, Psychological, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology, Aged
Abstract: International audience; In this study, perceived stress and quality of life were measured with PCV-Metra and SF-12 scales in outpatients consulting for different dermatoses in 5 academic dermatology departments for 5 consecutive days. 658 patients were enrolled in the study. Perceived stress was higher in women and the mental component of their quality of life was more altered. Perceived stress was higher in Paris than in other areas and was respectively 11.4, 10.4, 9.2 and 8.9 for psoriasis, acne, atopic dermatitis and pigmented tumours. Perceived stress was correlated to mental quality of life. Stress was more elevated in people with inflammatory dermatoses than in those with tumours. To our knowledge, this is the first comparative study of both stress and quality of life levels in different dermatoses. Stress levels were lower in people with pigmented tumours, suggesting that they can be used as controls in comparative studies because they can be considered as healthy subjects. On the contrary, patients with psoriasis had a very high level of perceived stress and a deeply altered quality of life.
Published: 2008
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33. Melanoma susceptibility and progression: Association study between polymorphisms of the chemokine (CCL2) and chemokine receptors (CX3CR1, CCR5)

Author: Christophe Combadière, Philippe Aegerter, Dominique Vitoux, Philippe Saiag, Pierre Wolkenstein, Pauline Rodero, Nadem Soufir, Bernard Grandchamp, Nicolas Dupin, Céleste Lebbé, Nicole Basset-Seguin, Mathieu P Rodero, Vincent Descamps, Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Service de dermatologie, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de recherche clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Pathologie et virologie moléculaire (PVM (UMR_7151)), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service de dermatologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Saint-Louis, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie et immunologie, Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]
Subjects: Adult, Male, CCR2, Chemokine, Skin Neoplasms, Adolescent, Receptors, CCR5, [SDV]Life Sciences [q-bio], CX3C Chemokine Receptor 1, Dermatology, C-C chemokine receptor type 6, Biochemistry, 03 medical and health sciences, Chemokine receptor, 0302 clinical medicine, Risk Factors, CX3CR1, Humans, Medicine, Genetic Predisposition to Disease, CCL13, Melanoma, Molecular Biology, Chemokine CCL2, ComputingMilieux_MISCELLANEOUS, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, biology, business.industry, Middle Aged, 3. Good health, CXCL5, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Female, Receptors, Chemokine, business, CCL21
Abstract: International audience
Published: 2007
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34. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

Author: Valérie Cormier-Daire, David Geneviève, Nathalie Villeneuve, Vincent El Ghouzzi, Delphine Héron, Martine Le Merrer, Florence Pinton, Catherine Prost-Squarcioni, Damien Sanlaville, Arnold Munnich, Aurélia Jacquette, Gabriel Kalifa, Service de Génétique Médicale, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Cytogénétique Constitutionnelle [Hospices civils de Lyon], Hospices Civils de Lyon (HCL), Hôpital Saint-Vincent de Paul, Service de Neurologie, Hôpital Henri Gastaut, CHU Necker - Enfants Malades [AP-HP], El Ghouzzi, Vincent, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)
Subjects: Microcephaly, Ataxia, Lysosomal storage disorders, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Iliac crest, mental retardation, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, Multienzyme Complexes, Intellectual Disability, Spondyloepimetaphyseal dysplasia, Genetics, medicine, Humans, Abnormalities, Multiple, Inbreeding, Child, Genetics (clinical), Pelvis, Skin, 030304 developmental biology, Bone Diseases, Developmental, 0303 health sciences, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Intracellular Signaling Peptides and Proteins, Proteins, autosomal recessive, Syndrome, Anatomy, medicine.disease, Sulfate Adenylyltransferase, Radiography, Developmental disorder, Microscopy, Electron, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Dysplasia, Child, Preschool, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: International audience; Spondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of conditions composed of at least 15 well-defined entities. The classification is based on clinical, radiological and molecular findings. Among them, several conditions also include a mental retardation (MR) syndrome, namely Wolcott-Rallison syndrome, Dyggve-Melchior-Clausen syndrome (DMC) and lysosomal storage disorders. Here, we report on a novel form of SEMD with MR in two Pakistani sisters born to first-cousin parents. SEMD, MR, microcephaly, ataxia, facial dysmorphism and hirsutism of back and legs were noted in the two children. Skeletal findings included flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, small carpal bones and narrow iliac wings without lacy pelvis iliac crest. Similarities with DMC prompted us to test and eventually exclude the DMC gene, dymeclin, by direct sequencing. Similarly, we excluded the PAPSS2 gene (3'-alpha phosphoadenosine 5'-phosphosulphate synthase 2) responsible for SEMD Pakistani type. The combination of features observed in the two sisters does not fit with any previously reported SEMD and represents therefore a novel form of autosomal recessive SEMD with MR.
Published: 2005
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35. Analysis of HLA antigen expression in benign and malignant melanocytic lesions reveals that upregulation of HLA-G expression correlates with malignant transformation, high inflammatory infiltration and HLA-A1 genotype

Author: Marie-Françoise Avril, Alain Dupuy, Edgardo D. Carosella, Selim Aractingi, Yves Allory, Pascale Paul, Francesco Borrini, El Chérif Ibrahim, Pierre Duvillard, Neurobiologie des interactions cellulaires et neurophysiopathologie - NICN (NICN), Centre National de la Recherche Scientifique (CNRS)-Université de la Méditerranée - Aix-Marseille 2, Service de Recherche en Hémato-Immunologie (SRHI - UMR_E 05), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7), Service de dermatologie et allergologie [CHU Tenon], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'anatomie pathologique [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de dermatologie, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Tenon [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Male, Cancer Research, Skin Neoplasms, Genotype, Human leukocyte antigen, Biology, Malignant transformation, Immunoenzyme Techniques, 03 medical and health sciences, 0302 clinical medicine, Antigen, HLA Antigens, HLA-G, medicine, Nevus, Cytotoxic T cell, Humans, Melanoma, HLA-A1 Antigen, Skin, HLA-G Antigens, Histocompatibility Antigens Class I, Histocompatibility Antigens Class II, Middle Aged, medicine.disease, Up-Regulation, Cell Transformation, Neoplastic, Oncology, Tumor progression, 030220 oncology & carcinogenesis, Lymphatic Metastasis, Immunology, Melanocytes, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030215 immunology
Abstract: Previous studies indicate that the nonclassical class I HLA-G antigen, whose physiologic expression is mainly restricted to placenta, is upregulated in melanoma, renal carcinoma, lung carcinoma, glioblastoma and ovarian carcinoma, where its inhibitory effect on cytotoxic effector cells function is thought to participate in immune evasion by tumor cells. To define whether this expression was a specific feature of melanocytic malignant transformation, 174 paraffin-embedded melanocytic lesions including naevi, lentigo, primary and metastatic melanomas were analyzed for HLA-G and other HLA class I and class II antigen expression. HLA-G antigen expression in melanocytic cells was found to be significantly higher (p < 0.0003) in melanoma (22/79, 28%) than in naevi (1/70, 1.4%), suggesting that upregulation of HLA-G is associated with malignant transformation in this cell type. Further identification of HLA-G antigen expression in inflammatory infiltrating cells results in an overall frequency of HLA-G expressing cells that is higher in melanoma (28/79, 35.5%) than in naevi (5/60, 8.3%) or lentigo (2/23, 8.7%). Upregulation of HLA-G or HLA class II molecules in melanocytic cells thus appears as a better predictor of malignancy than classical HLA class I antigen defects, which are often described as an important mechanism used by tumor cells to evade immune surveillance. Furthermore, HLA-G expression was electively found in lesions that exhibited a high inflammatory infiltrate as well as in patients displaying HLA-A1 genotype. These findings may provide new insights in the comprehension of tumor progression and design of therapeutic approaches aimed at enhancing antitumor immune responses in melanoma patients.
Published: 2004

36. Radiation dose as a risk factor for malignant melanoma following childhood cancer

Author: Stanislaw Garwicz, Sylvie Guerin, A. Dupuy, Harald Anderson, A Shamsaldin, Marie-Françoise Avril, Michael M. Hawkins, Eric Quiniou, Jean Chavaudra, F. de Vathaire, Odile Oberlin, Gudrun Svahn-Tapper, Torgil Möller, Epidémiologie des cancers : Radiocarcinogénèse et effets iatrogènes des traitements, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Département de radiothérapie [Gustave Roussy], Institut Gustave Roussy (IGR), Physique médicale, Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Biophysique moléculaire, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Curie, Department of Public Health and Epidemiology, University of Birmingham [Birmingham], Service de dermatologie, Département de médecine oncologique [Gustave Roussy], Département de Pédiatrie, Médecine nucléaire, Département d'imagerie médicale [Gustave Roussy], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Oncology, Cancer Research, MESH: Neoplasms, Radiation-Induced, MESH: Radiotherapy, Neoplasms, Radiation-Induced, Skin Neoplasms, medicine.medical_treatment, Cohort Studies, MESH: Risk Factors, Risk Factors, MESH: Child, Neoplasms, Medicine, MESH: Neoplasms, Survivors, MESH: Radiotherapy Dosage, Child, MESH: Cohort Studies, Melanoma, MESH: Survivors, MESH: Middle Aged, MESH: Infant, Newborn, Neoplasms, Second Primary, Radiotherapy Dosage, MESH: Follow-Up Studies, Middle Aged, MESH: Infant, Child, Preschool, Cohort, Cohort study, Adult, medicine.medical_specialty, MESH: Neoplasms, Second Primary, Adolescent, MESH: Melanoma, Internal medicine, Humans, Risk factor, MESH: Adolescent, MESH: Humans, Radiotherapy, business.industry, MESH: Skin Neoplasms, MESH: Child, Preschool, Case-control study, Infant, Newborn, Cancer, Infant, MESH: Adult, Odds ratio, medicine.disease, Surgery, Radiation therapy, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Follow-Up Studies
Abstract: The aim of this study was to determine therapy-related risk factors for the development of melanoma after childhood cancer. Among 4401 3-year survivors of a childhood cancer in eight French and British centres and 25120 patients younger than 20 years old at first malignant neoplasm (FMN) extracted from the Nordic Cancer Registries, 16 patients developed a melanoma as a second malignant neoplasm (SMN). A cohort study of the French and British cohorts was performed. In a nested case-control study, the 16 patients who developed a melanoma as a SMN (cases) were matched with 3-5 controls in their respective cohort according to gender, age at the first cancer, the calendar year of occurrence of the first cancer and follow-up. Radiotherapy appeared to increase the risk of melanoma for local doses >15 Gy, Odds Ratio (OR)=13 (95% Confidence Interval (CI): 0.94-174). Regarding chemotherapy, we observed an increased OR for both alkylating agents and spindle inhibitors, OR=2.7 (95% CI: 0.5-14). Children treated for a gonadal tumour as a FMN were found to be at a higher risk of melanoma, OR=8.7 (95% CI: 0.9-86). The adjusted OR for the local radiation dose was 1.07 (95% CI: 1.00-1.15). In conclusion, radiotherapy may contribute to an increased risk of melanoma as a SMN, but only at very high doses of low linear energy transfer radiation. Common genetic origins between gonadal tumours and malignant melanomas are likely.
Published: 2003

37. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

Author: Wassim Chemaitilly, Nathalie Dagoneau, Catherine Prost-Squarcioni, Richard C. Trembath, Martine Le Merrer, Christel Thauvin-Robinet, Alain Verloes, Lihadh Al-Gazali, Valérie Cormier-Daire, Esther Kinning, Vincent El Ghouzzi, Arnold Munnich, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cardiologie (hôpital général, CHU Dijon), Hôpital général (CHU Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Pediatrics, Faculty of Medicine and Health Sciences, UAE University, Hématologie -Immunologie -Cibles thérapeutiques, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Handicaps génétiques de l'enfant (Inserm U393), King‘s College London, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cardiologie, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Male, Positional cloning, Protein family, Genetic Linkage, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Molecular Sequence Data, Population, Nonsense mutation, Biology, Homology (biology), Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Gene expression, Genetics, Humans, Abnormalities, Multiple, Amino Acid Sequence, education, Molecular Biology, Gene, Genetics (clinical), Skin, 030304 developmental biology, 0303 health sciences, education.field_of_study, [SDV.GEN]Life Sciences [q-bio]/Genetics, Base Sequence, Intracellular Signaling Peptides and Proteins, Proteins, Sequence Analysis, DNA, General Medicine, Pedigree, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Female, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Dyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1. DMC is characterized by the association of a spondylo-epi-metaphyseal dysplasia and mental retardation. Electron microscopic study of cutaneous cells of an affected child showed dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. As the etiology of the disorder is unknown, we have used a positional cloning strategy to identify the DMC gene. We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families. The mutations were nonsense mutations (R194X, R204X, L219X, Q483X), splice site or frameshift mutations (K626N+92aa to stop). The DMC gene transcript is widely distributed but appears abundant in chondrocytes and fetal brain. The predicted protein product of the DMC gene yields little insight into its likely function, showing no significant homology to any known protein family. However, the carboxy terminal end comprises a cluster of dileucine motifs, highly conserved across species. We conclude that DMC syndrome is consequent upon loss of function of a gene that we propose to name Dymeclin, which may have a role in process of intracellular digestion of proteins.
Published: 2003
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38. 3D Quantification of melanin in human skin in vivo based on multiphoton microscopy, image processing

Author: Thérèse Baldeweck, Etienne Decencière, Sébastien Brizion, Serge Koudoro, Emmanuelle Tancrède-Bohin, Ana-Maria Pena, L'Oréal Recherche France (L'Oréal Recherche), L'OREAL, Centre de Morphologie Mathématique (CMM), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), MINES ParisTech - École nationale supérieure des mines de Paris-PSL Research University (PSL), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV]

39. A survey of primary care physician practices in antibiotic prescribing for the treatment of uncomplicated male gonoccocal urethritis

Author: Patrice Sednaoui, Andrea Lasserre, Alessandra Falchi, Véronique Massari, Clément Turbelin, Thierry Blanchon, Anne Gallay, François Lassau, Thomas Hanslik, ESIM - Déterminants Sociaux de la Santé et du Recours aux Soins (DS3), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Veille Sanitaire (INVS), Institut Alfred Fournier, Institut Alfred Fournier Paris, Service de dermatologie [Paris], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service de Médecine Interne, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], The Institut de Veille Sanitaire (InVS, France) provided funding and support for the design and conduct of the study, interpretation of the data and approval of the manuscript., Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and BMC, Ed.
Subjects: Male, MESH: Urethritis, Health Knowledge, Attitudes, Practice, Pediatrics, MESH: Health Knowledge, Attitudes, Practice, Gonorrhea, MESH: Health Care Surveys, Azithromycin, medicine.disease_cause, 0302 clinical medicine, MESH: Drug Prescriptions, Drug Resistance, Multiple, Bacterial, Medicine, 030212 general & internal medicine, Practice Patterns, Physicians', Response rate (survey), lcsh:R5-920, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Middle Aged, MESH: Physicians, Primary Care, Standard treatment, Middle Aged, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, Anti-Bacterial Agents, 3. Good health, [SDV.SP] Life Sciences [q-bio]/Pharmaceutical sciences, Population Surveillance, Female, France, lcsh:Medicine (General), Family Practice, Research Article, medicine.drug, Adult, medicine.medical_specialty, Attitude of Health Personnel, MESH: Attitude of Health Personnel, Drug Prescriptions, Physicians, Primary Care, MESH: Population Surveillance, 03 medical and health sciences, Antibiotic resistance, MESH: Anti-Bacterial Agents, Humans, Urethritis, MESH: Physician's Practice Patterns, MESH: Humans, 030306 microbiology, business.industry, Primary care physician, MESH: Gonorrhea, MESH: Adult, MESH: Drug Resistance, Multiple, Bacterial, medicine.disease, MESH: Male, MESH: France, Health Care Surveys, Neisseria gonorrhoeae, business, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background The development of resistance to antimicrobial therapy by Neisseria gonorrhoeae causes on-going problems for individual case management of gonorrhoea. Surveillance data about N. gonorrhoeae have indicated an increase in the incidence of gonorrhoea in France in 2006. As a consequence of the development of antibiotic resistance in N. gonorrhoeae, French guidelines excluded fluoroquinolones as a standard treatment for N. gonorrhoeae. Ceftriaxone became the recommended treatment, associated with azithromycin for Clamydia trachomatis infection. Our aim was to describe the practice patterns of general practitioners (GPs) in managing the antibiotic treatment of patients with symptoms suggestive of uncomplicated male urethritis. Methods We developed a clinical vignette describing a man with typical gonococcal urethritis symptoms to elicit questions about antibiotic treatment. We mailed the electronic questionnaire to a random sample of 1000 French GPs belonging to the Sentinelles Network. Results By the end of the survey period, 350 vignettes were received, yielding a response rate of 35%. Sixty-six GPs (20.2%) prescribed the recommended antibiotics for the simultaneous treatment of N. gonorrhoeae and C. trachomatis infections, while 132 GPs (40.4%) prescribed only non-recommended antibiotics, including ciprofloxacin in 69 cases (21.1%). General practitioners with less than 10 years in practice showed better compliance to guidelines than those with more years in practice (p < 0.05). Conclusions The results suggest a mismatch between the guidelines and the antibiotic treatment of male uncomplicated urethritis by French GPs, mostly among the subgroup of physicians who have been in practice longer. Educational approaches based on practice feedback need to be developed to improve these deficits in the quality of care.
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40. Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Author: Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, and Benusiglio PR
Subjects: Humans, Adult, Female, Male, Young Adult, Magnetic Resonance Imaging, Mutation, PTEN Phosphohydrolase genetics, Central Nervous System Vascular Malformations genetics, Central Nervous System Vascular Malformations complications, Central Nervous System Vascular Malformations diagnostic imaging, Central Nervous System Vascular Malformations diagnosis, Hamartoma Syndrome, Multiple genetics, Hamartoma Syndrome, Multiple complications
Abstract: Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case-by-case basis., (© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
Published: 2024
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41. [Dysimmune manifestations associated with myelodysplastic neoplasms and chronic myelomonocytic leukaemias].

Author: Jachiet V, Hadjadj J, Zhao LP, Chasset F, Fain O, Fenaux P, and Mekinian A
Subjects: Humans, Azacitidine therapeutic use, Leukemia, Myelomonocytic, Chronic complications, Leukemia, Myelomonocytic, Chronic genetics, Leukemia, Myelomonocytic, Chronic drug therapy, Myelodysplastic Syndromes complications, Myelodysplastic Syndromes genetics, Skin Diseases
Abstract: Systemic inflammatory or autoimmune diseases (SIAD) are observed in up to a quarter of patients with myelodysplastic syndromes (MDS) or chronic myelomonocytic leukemia (CMML), with a broad clinical spectrum including asymptomatic biological abnormalities, isolated inflammatory clinical manifestations (recurrent fever, arthralgia, neutrophilic dermatoses…) or identified systemic diseases (giant cell arteritis, recurrent polychondritis…). Recent advances in molecular biology have shed new light on the pathophysiological mechanisms that link inflammatory manifestations and myeloid hemopathies, particularly in VEXAS syndrome following the identification of somatic mutations in the UBA1 gene, or in neutrophilic dermatoses with the concept of myelodysplasia cutis. Although the presence of SIAD does not seem to affect overall survival or the risk of transformation into acute myeloid leukemia, their treatment remains a challenge given the frequent high level of corticosteroid dependence as well as the poor efficacy and tolerance (cytopenias, infections) of conventional immunosuppressive agents. Recent prospective data supports the interest of a therapeutic strategy using demethylating agents and notably azacitidine to target the pathological clone., (Copyright © 2023 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)
Published: 2023
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42. Cutaneous Involvement in Catastrophic Antiphospholipid Syndrome in a Multicenter Cohort of 65 Patients.

Author: Dupré A, Morel N, Yelnik C, Moguelet P, Le Guern V, Stammler R, Nguyen Y, Paule R, Dufrost V, Ackermann F, Benhamou Y, Godeau B, Lambert M, Duffau P, Mekinian A, Saadoun D, Mouthon L, Hachulla E, Maillard H, Levesque H, Morell-Dubois S, Leroux G, Piette JC, Chasset F, and Costedoat-Chalumeau N
Subjects: Humans, Female, Adult, Male, Retrospective Studies, Cohort Studies, Catastrophic Illness, Antiphospholipid Syndrome complications, Antiphospholipid Syndrome epidemiology, Antiphospholipid Syndrome diagnosis, Lupus Erythematosus, Systemic pathology
Abstract: Importance: Catastrophic antiphospholipid syndrome (CAPS) is a severe, rare complication of antiphospholipid syndrome (APS), but cutaneous involvement has not yet been adequately described., Objective: To describe cutaneous involvement during CAPS, its clinical and pathological features, and outcomes., Design, Setting, and Participants: This cohort study was a retrospective analysis of patients included in the French multicenter APS/systemic lupus erythematosus register (ClinicalTrials.gov: NCT02782039) by December 2020. All patients meeting the revised international classification criteria for CAPS were included, and patients with cutaneous manifestations were analyzed more specifically., Main Outcomes and Measures: Clinical and pathological data as well as course and outcome in patients with cutaneous involvement during CAPS were collected and compared with those in the register without cutaneous involvement., Results: Among 120 patients with at least 1 CAPS episode, the 65 (54%) with skin involvement (43 [66%] women; median [range] age, 31 [12-69] years) were analyzed. Catastrophic antiphospholipid syndrome was the first APS manifestation for 21 of 60 (35%) patients with available data. The main lesions were recent-onset or newly worsened livedo racemosa (n = 29, 45%), necrotic and/or ulcerated lesions (n = 27, 42%), subungual splinter hemorrhages (n = 19, 29%), apparent distal inflammatory edema (reddened and warm hands, feet, or face) (n = 15, 23%), and/or vascular purpura (n = 9, 14%). Sixteen biopsies performed during CAPS episodes were reviewed and showed microthrombi of dermal capillaries in 15 patients (94%). These lesions healed without sequelae in slightly more than 90% (58 of 64) of patients. Patients with cutaneous involvement showed a trend toward more frequent histologically proven CAPS (37% vs 24%, P = .16) than those without such involvement, while mortality did not differ significantly between the groups (respectively, 5% vs 9%, P = .47)., Conclusions and Relevance: In this cohort study, half the patients with CAPS showed cutaneous involvement, with a wide spectrum of clinical presentations, including distal inflammatory edema. Skin biopsies confirmed the diagnosis in all but 1 biopsied patient.
Published: 2023
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43. Chemical characterization of inks in skin reactions to tattoo.

Author: Colboc H, Bazin D, Reguer S, Lucas IT, Moguelet P, Amode R, Jouanneau C, Soria A, Chasset F, Amsler E, Pecquet C, Aractingi S, Bellot-Gurlet L, Deschamps L, Descamps V, and Kluger N
Subjects: Humans, Ink, Soot, Spectrum Analysis, Raman methods, Spectrometry, X-Ray Emission, Tattooing adverse effects
Abstract: Skin reactions are well described complications of tattooing, usually provoked by red inks. Chemical characterizations of these inks are usually based on limited subjects and techniques. This study aimed to determine the organic and inorganic composition of inks using X-ray fluorescence spectroscopy (XRF), X-ray absorption spectroscopy (XANES) and Raman spectroscopy, in a cohort of patients with cutaneous hypersensitivity reactions to tattoo. A retrospective multicenter study was performed, including 15 patients diagnosed with skin reactions to tattoos. Almost half of these patients developed skin reactions on black inks. XRF identified known allergenic metals - titanium, chromium, manganese, nickel and copper - in almost all cases. XANES spectroscopy distinguished zinc and iron present in ink from these elements in endogenous biomolecules. Raman spectroscopy showed the presence of both reported (azo pigments, quinacridone) and unreported (carbon black, phtalocyanine) putative organic sensitizer compounds, and also defined the phase in which Ti was engaged. To the best of the authors' knowledge, this paper reports the largest cohort of skin hypersensitivity reactions analyzed by multiple complementary techniques. With almost half the patients presenting skin reaction on black tattoo, the study suggests that black modern inks should also be considered to provoke skin reactions, probably because of the common association of carbon black with potential allergenic metals within these inks. Analysis of more skin reactions to tattoos is needed to identify the relevant chemical compounds and help render tattoo ink composition safer., (open access.)
Published: 2022
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44. Venous thromboembolism during systemic inflammatory and autoimmune diseases associated with myelodysplastic syndromes, chronic myelomonocytic leukaemia and myelodysplastic/myeloproliferative neoplasms: a French multicentre retrospective case-control study.

Author: Péan de Ponfilly-Sotier M, Jachiet V, Benhamou Y, Lahuna C, De Renzis B, Kottler D, Voillat L, Dimicoli-Salazar S, Banos A, Chauveheid MP, Alexandra JF, Grignano E, Liferman F, Laborde M, Broner J, Michel M, Lambotte O, Laribi K, Venon MD, Dussol B, Martis N, Thepot S, Park S, Couret D, Roux-Sauvat M, Terriou L, Hachulla E, Bally C, Galland J, Allain JS, Parcelier A, Peterlin P, Cohen-Bittan J, Regent A, Ackermann F, Le Guen J, Algrin C, Charles P, Daguindau E, Puechal X, Dunogue B, Blanchard-Delaunay C, Beyne-Rauzy O, Grobost V, Schmidt J, Le Gallou T, Dubos-Lascu G, Sonet A, Denis G, Roy-Peaud F, Fenaux P, Adès L, Fain O, and Mekinian A
Subjects: Case-Control Studies, Humans, Retrospective Studies, Autoimmune Diseases complications, Autoimmune Diseases epidemiology, Leukemia, Myelomonocytic, Chronic complications, Leukemia, Myelomonocytic, Chronic epidemiology, Myelodysplastic Syndromes complications, Myelodysplastic Syndromes epidemiology, Venous Thromboembolism diagnosis, Venous Thromboembolism epidemiology, Venous Thromboembolism etiology
Abstract: Objectives: Myelodysplastic syndromes (MDS) and chronic myelomonocytic leukaemia (CMML) are associated with systemic inflammatory and autoimmune diseases (SIADs) in 10-30% of cases. The aims of this study were (i) to evaluate the prevalence of venous thromboembolism VTE in patients presenting with both MDS/CMML and SIADs, (ii) to describe risk factors associated with thrombosis, and (iii) to analyse the impact of VTE on overall survival and transformation to acute myeloid leukaemia in comparison to patients with MDS/CMML-associated SIADs without VTE., Methods: This retrospective multicentre case-control study was conducted among patients with MDS/CMML and dysimmune disorders and featured in the French retrospective database of the French Network of Dysimmune Disorders Associated with Hemopathies (MINHEMON), diagnosed with MDS/CMML and dysimmune disorders., Results: During a median follow-up of 16 months (5-48) VTE occurred in 35 patients (21.6 %) whereas 127 patients did not. Among those with VTE, 8 patients (22.9%) experienced two or more VTE. Common prothrombotic risk factors were not significantly different in patients with or without VTE. CMML was more frequent in patients without VTE (37 % vs. 14.3%, p=0.01), whereas myelodysplasic/myeloproliferative neoplasm (MDS/MPN) was higher in VTE patients (20 % vs. 5.5 %, p=0.01). In a multivariate analysis, only MDS/CMML progression at the time of VTE (odds ratio 28.82, 95 % CI (5.52-530.70) was significantly associated with VTE. When treated with an anticoagulation therapy, bleeding occurred in 19.4% of cases (6/31). Overall survival was not significantly different between patients with and without VTE (p=0.68). Leukaemia-free survival between groups was not significantly different (p=0.83)., Conclusions: VTE is a common complication in MDS/CMML-associated SIADSs with an increased risk of bleeding when treated by anticoagulants. In the MDS/CMML subgroup, SIADS flares and MDS/CMML progression seem to be prothrombotic risk factors.
Published: 2022
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45. Response to BRAF and MEK Inhibitors in BRAF Thr599dup-Mutated Melanoma.

Author: Oberlé M, Jamme P, Mansard S, Machet L, Hervieu A, Kramkimel N, Greliak A, Jarrousse AS, Derangère V, Dudoignon D, Descarpentries C, and Mortier L
Abstract: Competing Interests: Philippe JammeConsulting or Advisory Role: Pierre Fabre, BMS, NovartisTravel, Accommodations, Expenses: Pierre Fabre Sandrine MansardConsulting or Advisory Role: Novartis, SanofiTravel, Accommodations, Expenses: Bristol Myers Squibb, Pierre Fabre, Novartis Alice HervieuConsulting or Advisory Role: Pierre FabreTravel, Accommodations, Expenses: Novartis Clotilde DescarpentriesConsulting or Advisory Role: AstraZenecaTravel, Accommodations, Expenses: Roche, AstraZeneca, Boehringer Ingelheim Laurent MortierHonoraria: BMS France, MSD Oncology, Novartis, Sun pharmaResearch Funding: MSD Oncology (Inst), Pierre Fabre (Inst)Travel, Accommodations, Expenses: Roche/Genentech, Novartis, Bristol Myers SquibbNo other potential conflicts of interest were reported.
Published: 2022
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46. Efficacy, safety and factors associated with disease progression in patients with unresectable (stage III) or distant metastatic (stage IV) BRAF V600-mutant melanoma: An open label, non-randomized, phase IIIb study of trametinib in combination with dabrafenib.

Author: Saiag P, Robert C, Grob JJ, Mortier L, Dereure O, Lebbe C, Mansard S, Grange F, Neidhardt EM, Lesimple T, Machet L, Bedane C, Maillard H, Dalac-Rat S, Nardin C, Szenik A, Denden A, and Dutriaux C
Subjects: Adult, Aged, Disease Progression, Female, Humans, Imidazoles administration & dosage, Imidazoles adverse effects, Male, Melanoma genetics, Melanoma mortality, Melanoma pathology, Middle Aged, Neoplasm Staging, Oximes administration & dosage, Oximes adverse effects, Prospective Studies, Pyridones administration & dosage, Pyridones adverse effects, Pyrimidinones administration & dosage, Pyrimidinones adverse effects, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Melanoma drug therapy, Mutation, Proto-Oncogene Proteins B-raf genetics
Abstract: Background: BRAF and MEK inhibitors combination, including dabrafenib (D) and trametinib (T) have transformed the treatment of BRAF V600-mutant advanced melanoma patients, including patients with brain metastasis (BM). In a large phase IIIb, single-arm, open-label, multicenter French study, we assessed safety, response to treatment, progression-free survival (PFS) and factors associated with progression, and stratified the population into risk groups., Methods: Patients with unresectable, advanced, BRAF V600-mutant melanoma were included, including those with the presence of BM, Eastern Cooperative Oncology Group Performance Status (ECOG PS) ≤2, elevated lactate dehydrogenase (LDH) or previous melanoma treatments. Responses were determined locally, without central review. PFS was estimated using the Kaplan-Meier analysis and modelled with multivariate Cox model. Risk subgroups were identified using a regression tree analysis., Results: Between March 2015 and November 2016, 856 patients received at least one D + T dose. Overall, 92% had stage IV melanoma, 38% ECOG PS ≥1, 32% BM and 37.5% elevated LDH. Median PFS was 8.02 months (95% confidence interval [CI] 7.33-8.77). Significant factors associated with lower PFS were ECOG PS ≥1, elevated LDH, ≥3 metastatic sites and presence of BM. Patients with <3 metastatic sites, ECOG = 0 and no BM had the highest probability of PFS at 6 months (83%, 95% CI 76-87) and 12 months (56%, 95% CI 47-64), respectively., Conclusions: This is the largest prospective study in advanced BRAF V600-mutant melanoma patients treated with D + T, conducted in conditions close to 'real-world practice'. We confirm previous findings that LDH, ECOG PS and ≥3 metastatic sites are associated with shorter PFS, but the real-world setting introduces BM as a major prognostic factor., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)
Published: 2021
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47. Eosinophilic vasculitis associated with persistent dupilumab-induced hypereosinophilia in severe asthma.

Author: Descamps V, Deschamps L, El Khalifa J, Groh M, Gibier JB, Lefèvre G, and Taillé C
Subjects: Antibodies, Monoclonal, Humanized adverse effects, Humans, Asthma drug therapy, Eosinophilia chemically induced, Eosinophilia complications, Vasculitis chemically induced, Vasculitis complications
Published: 2021
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48. Acute and fatal cephalosporin-induced autoimmune haemolytic anaemia.

Author: Boilève A, Gavaud A, Grignano E, Franck N, Carlotti A, Mira JP, Bouscary D, and Jozwiak M
Subjects: Aged, 80 and over, Ceftriaxone adverse effects, Cephalosporins adverse effects, Hemolysis, Humans, Male, Anemia, Hemolytic chemically induced, Anemia, Hemolytic, Autoimmune chemically induced
Abstract: We report the case of an 82-year old male patient admitted in our medical intensive care unit for diffuse skin lesions, 3 days after the onset of ceftriaxone for bilateral pneumonia without microbiological documentation. The patient concomitantly exhibited diffuse skin lesions compatible with livedo and neurological and haemodynamic failure. Biological analysis revealed acute haemolytic anaemia. Warming of patient, red blood-cells transfusion and high-doses corticosteroids were initiated and ceftriaxone was stopped. Despite these therapeutics, the patient exhibited multiple organ failure and died. The main suspected triggering factor of this acute and fatal haemolytic anaemia was ceftriaxone administration considering: (i) the delay between cephalosporin administration and symptoms; (ii) the worsening of livedo and acrocyanosis a few hours after meningeal ceftriaxone doses; and (iii) fatal evolution. Cephalosporin-induced autoimmune haemolytic anaemia is a rare and serious cause of livedo that should be suspected in patients exhibiting livedo and acute haemolytic anaemia within hours/days following cephalosporin administration., (© 2020 British Pharmacological Society.)
Published: 2021
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49. Tattoo and epidural analgesia: Rise and fall of a myth.

Author: Kluger N and Sleth JC
Subjects: Female, History, 21st Century, Humans, Mythology, Obstetric Labor Complications epidemiology, Obstetric Labor Complications history, Pregnancy, Therapeutic Misconception, Analgesia, Epidural adverse effects, Analgesia, Epidural history, Analgesia, Epidural statistics & numerical data, Tattooing adverse effects, Tattooing statistics & numerical data
Abstract: Since 2002, it has been unclear whether epidural analgesia (EA) could safe through a lower back tattoo. Theoretical risks of pigment tissue coring have led to precautionary measures and misconception that EA should be excluded. We reviewed chronologically the 18 years of medical literature summarizing the so-called risks of EA through lower back tattoo in parturient women. To date, no convincing complication has been ever reported after an EA through a tattoo. We hope this review will bring a closure to a 18-year-old "non-issue" that has poisoned and stressed unnecessarily a generation of parturient., (Copyright © 2020 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Published: 2020
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50. Mastocytosis onset in a patient with treated hairy cell leukemia: Just a coincidence?

Author: Boilève A, Contejean A, Barreau S, Sourdeau É, Friedrich C, Kosmider O, Burroni B, Dupin N, Lheure C, Rossignol J, Bouscary D, and Grignano É
Subjects: Adult, Bone Marrow pathology, Female, Humans, Leukemia, Hairy Cell drug therapy, Mutation, Neoplasm Invasiveness, Proto-Oncogene Proteins B-raf genetics, Proto-Oncogene Proteins c-kit genetics, Rituximab therapeutic use, Vemurafenib adverse effects, Vemurafenib therapeutic use, Leukemia, Hairy Cell complications, Mastocytosis, Systemic etiology
Abstract: Mastocytosis is a mast cell disease caused by functionally defective infiltrating mast cells and CD34+ mast cell precursors. The heterogeneous group of mast cell disorders is categorized into five variants in the updated 2017 World Health Organization (WHO) classification among those systemic mastocytosis with an associated neoplasm (SM-AHN). Except for myeloid neoplasia, lymphoproliferative disorders associated to SM-AHN are more scarce. Here, we report the second case ever described of associated mastocytosis and hairy-cell disease. A 38-year-old female patient without any specific medical history was diagnosed a hairy cell leukemia and BRAF V600E mutation was found in hairy cells. Since purine-analogs were avoided to prevent prolonged myelosuppression, she was treated with vemurafenib and rituximab. Despite early discontinuation due to vemurafenib-induced agranulocytosis, a partial response was observed. Strikingly, bone marrow biopsy performed one month after vemurafenib discontinuation revealed a nodular infiltration by 30% tumoral mastocytes. Along with elevated tryptase level, KIT D816V mutation on mastocytes and clinical exam, the patient was diagnosed with systemic mastocytosis with an associated hematological neoplasm (SM-AHN). No BRAF V600E mutation was found on mastocytes. The physiopathology of this association is not known and might be only a coincidence or a common genetic driver mutation enhancing mast and hairy cells., Competing Interests: Declaration of competing interest None., (Copyright © 2019 Elsevier Inc. All rights reserved.)
Published: 2020
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