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15. Angiomes rubis, une lésion spécifique de neurofibromatose de type 1

Author

Fertitta, L., primary, Bergqvist, C., additional, Moryousef, S., additional, Ferkal, S., additional, Funalot, B., additional, Lunati-Rozie, A., additional, Barau, C., additional, Kaltenbach, S., additional, Villarese, P., additional, Pasmant, E., additional, Vidaud, D., additional, Ortonne, N., additional, and Wolkenstein, P., additional

Published
2022
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16. Stigmatisation en lien avec les neurofibromes cutanés chez les adultes atteints de neurofibromatose de type 1 : développement et validation d’un nouvel outil de mesure

Author

Fertitta, L., Moryousef, S., Armand, M.L., Ferkal, S., Peiffer, B., Ravaud, P., Viet-Thi, T., Ezzedine, K., and Wolkenstein, P.

Abstract

La stigmatisation est définie comme un processus marquant un individu d’un sentiment de honte parce qu’il est considéré comme « déviant » par rapport à la normale. Il n’existe pas de score mesurant ce processus lié aux neurofibromes cutanés (NFc) chez les personnes atteintes de neurofibromatose 1 (NF1). Or, ce score a été collégialement défini comme indispensable à évaluer dans les essais cliniques ciblant les NFc. L’objectif de cette étude était de proposer un questionnaire évaluant la stigmatisation spécifiquement liée aux NFc chez les personnes atteintes de NF1 : cNF-PUSH-D.

Published
2024
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17. Étude de la densité cellulaire et de la fibrose dans une cohorte de 94 neurofibromes cutanés de patients NF1, corrélation avec les données cliniques

Author

Zardi, C., Bergqvist, C., Fertitta, L., Wolkenstein, P., and Ortonne, N.

Abstract

Les neurofibromes cutanés (NFc) se développent chez 95 % des malades ayant une neurofibromatose 1 (NF1) et impactent leur qualité de vie. Leur aspect, leur nombre et leur taille varient d’un patient à l’autre. L’étude d’un modèle murin de NF1 a montré qu’ils se développent en suivant une phase d’initiation, de progression (multiplication cellules) puis de stabilisation (j90). Les NFc sont constitués d’un mélange de cellules (cellules de Schwann, fibroblastes, vaisseaux, mastocytes, macrophages, capillaires) et de matrice extra-cellulaire (fibrose et mucopolysaccharides) mais leur importance relative n’est pas décrite. Cette information pourrait permettre dans le futur de développer des stratégies différentielles de traitement ciblant les cellules et/ou la production de collagène.

Published
2024
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18. Développement et validation d’un outil d’évaluation de la sévérité en lien avec les neurofibromes cutanés dans la neurofibromatose de type 1

Author

Fertitta, L., Audureau, E., Bergqvist, C., Moryousef, S., Ferkal, S., Lecorvoisier, P., Jannic, A., Armand, M.L., Lunati-Rozie, A., Hébrard, B., Ayache, H., Ezzedine, K., and Wolkenstein, P.

Abstract

Les neurofibromes cutanés (NFc) touchent plus de 95 % des individus atteints de neurofibromatose type 1 (NF1) et dégradent leur qualité de vie. À ce jour, seuls des traitements instrumentaux imparfaits existent. Des essais thérapeutiques les ciblant ont débuté et de nombreux sont attendus. Afin d’harmoniser l’évaluation de l’efficacité de ces différents traitements, les agences réglementaires exigent un outil global, fiable, reproductible et sensible au changement. L’objectif : proposer un outil répondant à ces exigences pour mesurer la sévérité en lien avec les NFc, le Nef-ASI.

Published
2024
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20. 085 Hypohidrosis, ichthyosis and hypokalemia: HELIX syndrome

Author

Fertitta, L., primary, Bolling, M.C., additional, Vargas, R., additional, van den Akker, P.C., additional, Bourrat, E., additional, van Geel, M., additional, Knebelmann, B., additional, Leclerc-Mercier, S., additional, Houillier, P., additional, and Hadj-Rabia, S., additional

Published
2021
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25. Skin manifestations of COVID-19 in children:Part 1

Author

Andina, D., Belloni-Fortina, A., Bodemer, C., Bonifazi, E., Chiriac, A., Colmenero, I., Diociaiuti, A., El-Hachem, M., Fertitta, L., van Gysel, D., Hernández-Martín, A., Hubiche, T., Luca, C., Martos-Cabrera, L., Maruani, A., Mazzotta, F., Akkaya, A. D., Casals, M., Ferrando, J., Grimalt, R., Grozdev, I., Kinsler, V., Morren, M. A., Munisami, M., Nanda, A., Novoa, M. P., Ott, H., Pasmans, S., Salavastru, C., Zawar, V., Torrelo, A., Andina, D., Belloni-Fortina, A., Bodemer, C., Bonifazi, E., Chiriac, A., Colmenero, I., Diociaiuti, A., El-Hachem, M., Fertitta, L., van Gysel, D., Hernández-Martín, A., Hubiche, T., Luca, C., Martos-Cabrera, L., Maruani, A., Mazzotta, F., Akkaya, A. D., Casals, M., Ferrando, J., Grimalt, R., Grozdev, I., Kinsler, V., Morren, M. A., Munisami, M., Nanda, A., Novoa, M. P., Ott, H., Pasmans, S., Salavastru, C., Zawar, V., and Torrelo, A.

Abstract

The current COVID-19 pandemic is caused by the SARS-CoV-2 coronavirus. The initial recognized symptoms were respiratory, sometimes culminating in severe respiratory distress requiring ventilation, and causing death in a percentage of those infected. As time has passed, other symptoms have been recognized. The initial reports of cutaneous manifestations were from Italian dermatologists, probably because Italy was the first European country to be heavily affected by the pandemic. The overall clinical presentation, course and outcome of SARS-CoV-2 infection in children differ from those in adults as do the cutaneous manifestations of childhood. In this review, we summarize the current knowledge on the cutaneous manifestations of COVID-19 in children after thorough and critical review of articles published in the literature and from the personal experience of a large panel of paediatric dermatologists in Europe. In Part 1, we discuss one of the first and most widespread cutaneous manifestation of COVID-19, chilblain-like lesions. In Part 2, we review other manifestations, including erythema multiforme, urticaria and Kawasaki disease-like inflammatory multisystemic syndrome, while in Part 3, we discuss the histological findings of COVID-19 manifestations, and the testing and management of infected children, for both COVID-19 and any other pre-existing conditions.

Published
2021

27. Acrosyndromes aigus pédiatriques au cours de l’épidémie de COVID-19 : étude des caractéristiques de la cellule familiale

Author

Hubiche, T., primary, Phan, A., additional, Leducq, S., additional, Rapp, J., additional, Fertitta, L., additional, Aubert, H., additional, Barbarot, S., additional, Chiaverini, C., additional, Giraudeau, B., additional, Labarelle, A., additional, Mc Craig, C., additional, Martin, L., additional, Monitor, L., additional, Nicol, I., additional, Piram, M., additional, Bissuel, M., additional, Bellissen, A., additional, Lasek, A., additional, Mallet, S., additional, Vabres, P., additional, and Maruani, A., additional

Published
2020
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33. Identification of three clinical neurofibromatosis 1 subtypes: Latent class analysis of a series of 1351 patients.

Author

Bergqvist, C., Fertitta, L., Ezzedine, K., Jannic, A., Zehou, O., Ferkal, S., Combemale, P., Barbarot, S., Mazereeuw‐Hautier, J., Sbidian, E., Wolkenstein, P., Adamski, Henri, Baumann‐Morel, Clarisse, Bellanné, Christine, Bieth, Eric, Bousquet, Pascal, Brandt, Christian, Balguerie, Xavier, Castelnau, Pierre, and Chaix, Yves

Subjects
*TUMOR suppressor genes, *NEUROFIBROMATOSIS 1, *NEUROFIBROMA, *SUPPRESSOR mutation, *SYMPTOMS, *DISEASE complications
Abstract

Background: Neurofibromatosis 1 (NF1) is one of the most common inherited disorders characterized by mutations in the tumour suppressor gene NF1. Its clinical manifestations are highly variable and unpredictable. A specific NF1 mutation does not predict the severity or complications of the disease. Objective: The objective of this study was to build an empirical classification scheme without any a priori hypotheses to identify the underlying NF1 subtypes that best explain the observed heterogeneity. Methods: We performed latent class analysis (LCA) of 1351 consecutive NF1 patients aged >17 years seen between 2002 and 2014. Data and phenotypic features were collected prospectively on a standardized form. Results: The median age was 36.8 (17–81) years. A three‐class model showed the best fit: 706 (52%) belonged to the LC1 'Cutaneous neurofibromas' class having preferentially cutaneous neurofibromas (99%), plexiform neurofibromas (63%) and blue‐red macules (29%); 593 (44%) belonged to the LC2 'Subcutaneous neurofibromas' class characterized by the presence of at least 10 subcutaneous neurofibromas (21%) and a familial form (77%) and 52 (4%) belonged to the LC3 'Dysmorphic phenotype' class characterized by dysmorphic features (78%) and learning difficulties (87%). Patients in LC1 had a higher likelihood of developing scoliosis (RR = 1.7, 95% confidence interval (CI) [1.2–2.4]). Patients in LC2 were more likely to be men (RR = 1.4, 95% CI [1.1–1.7]). Patients in LC3 were at higher risk of having an optic pathway glioma (RR = 4.8, 95% CI [1.9–11.8]) and epilepsy (RR = 4.5, 95% CI [1.8–11.6]). Conclusion: Our findings invite the performance of a larger cohort study to test whether the various latent classes reflect different underlying genetic modifiers of these phenotypic traits. [ABSTRACT FROM AUTHOR]

Published
2022
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35. Nécrolyse épidermique toxique de l’enfant : deux observations inhabituelles d’évolution fatale

Author

Welfringer-Morin, A., primary, Moulin, F., additional, Drummond, D., additional, Oualha, M., additional, De Saint Blanquat, L., additional, Bendavid, M., additional, Aoust, L., additional, Belahda, A., additional, Kossorotoff, M., additional, Fertitta, L., additional, Bellon, N., additional, Hadj-Rabia, S., additional, Delacourt, C., additional, Leclerc-Mercier, S., additional, Frassati-Biaggi, A., additional, De Prost, N., additional, Oro, S., additional, Renolleau, S., additional, and Bodemer, C., additional

Published
2019
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38. Cutaneous melioidosis: a review of the literature

Author

Fertitta, L, Monsel, G, Torresi, J, Caumes, E, Fertitta, L, Monsel, G, Torresi, J, and Caumes, E

Abstract

BACKGROUND: Melioidosis is mainly observed in South-East Asia, where Burkholderia pseudomallei is endemic. Cutaneous melioidosis (CM) has rarely been described and in contrast to systemic forms, there are no therapeutic recommendations to guide management. METHODS: We reviewed the literature published before January 2018, evaluating: dermatological presentation, natural history, diagnostic methods, and treatment options. We also distinguish between primary and secondary CM in which the infection first started in the skin or came from an extracutaneous localization, respectively, and chronic CM when duration exceeded 2 months. The recommended treatment for systemic forms included ceftazidime or meropenem, followed by oral maintenance therapy with cotrimoxazole or amoxicillin - clavulanic acid. RESULTS: Forty-three cases were published in 38 articles. Twenty-nine patients (67.4%) were travelers, including 13 (44.8%) returning from Thailand. Thirty-eight patients (88%) had primary CM, including nine (29.9%) with chronic infection. All cases of secondary CM first presented with acute infection. The median incubation time was 3 weeks. The most common presentation was cutaneous abscesses (58%). The recommended treatment was administered in 62.7% cases with 37.2% for maintenance therapy. Sixteen patients (37.2%) underwent surgery. Death was reported in less than 5%. CONCLUSION: CM should be considered in travelers returning from or residents of endemic countries, particularly Thailand, presenting with cutaneous abscesses, cellulitis, or ulcerations. Surgery may be necessary in a substantial proportion of patients and follow-up of at least 1 year is essential. Therapeutic recommendations need to be established.

Published
2019

39. Skin manifestations of COVID‐19 in children: Part 3.

Author

Andina, D., Belloni‐Fortina, A., Bodemer, C., Bonifazi, E., Chiriac, A., Colmenero, I., Diociaiuti, A., El‐Hachem, M., Fertitta, L., Gysel, D., Hernández‐Martín, A., Hubiche, T., Luca, C., Martos‐Cabrera, L., Maruani, A., Mazzotta, F., Akkaya, A. D., Casals, M., Ferrando, J., and Grimalt, R.

Subjects
CUTANEOUS manifestations of general diseases, COVID-19, ERYTHEMA multiforme, COVID-19 pandemic, SARS-CoV-2, SYMPTOMS
Abstract

Summary: The current COVID‐19 pandemic is caused by the SARS‐CoV‐2 coronavirus. The initial recognized symptoms were respiratory, sometimes culminating in severe respiratory distress requiring ventilation, and causing death in a percentage of those infected. As time has passed, other symptoms have been recognized. The initial reports of cutaneous manifestations were from Italian dermatologists, probably because Italy was the first European country to be heavily affected by the pandemic. The overall clinical presentation, course and outcome of SARS‐CoV‐2 infection in children differ from those in adults as do the cutaneous manifestations of childhood. In this review, we summarize the current knowledge on the cutaneous manifestations of COVID‐19 in children after thorough and critical review of articles published in the literature and from the personal experience of a large panel of paediatric dermatologists in Europe. In Part 1, we discuss one of the first and most widespread cutaneous manifestations of COVID‐19, chilblain‐like lesions, and in Part 2 we expanded to other manifestations, including erythema multiforme, urticaria and Kawasaki disease‐like inflammatory multisystemic syndrome. In this part of the review, we discuss the histological findings of COVID‐19 manifestations, and the testing and management of infected children for both COVID‐19 and any other pre‐existing conditions. Click here for the corresponding questions to this CME article. [ABSTRACT FROM AUTHOR]

Published
2021
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40. Skin manifestations of COVID‐19 in children: Part 2.

Author

Andina, D., Belloni‐Fortina, A., Bodemer, C., Bonifazi, E., Chiriac, A., Colmenero, I., Diociaiuti, A., El‐Hachem, M., Fertitta, L., Gysel, D., Hernández‐Martín, A., Hubiche, T., Luca, C., Martos‐Cabrera, L., Maruani, A., Mazzotta, F., Akkaya, A. D., Casals, M., Ferrando, J., and Grimalt, R.

Subjects
CUTANEOUS manifestations of general diseases, COVID-19, COVID-19 pandemic, MUCOCUTANEOUS lymph node syndrome, URTICARIA, SARS-CoV-2, SYMPTOMS
Abstract

Summary: The current COVID‐19 pandemic is caused by the SARS‐CoV‐2 coronavirus. The initial recognized symptoms were respiratory, sometimes culminating in severe respiratory distress requiring ventilation, and causing death in a percentage of those infected. As time has passed, other symptoms have been recognized. The initial reports of cutaneous manifestations were from Italian dermatologists, probably because Italy was the first European country to be heavily affected by the pandemic. The overall clinical presentation, course and outcome of SARS‐CoV‐2 infection in children differ from those in adults, as do the cutaneous manifestations of childhood. In this review, we summarize the current knowledge on the cutaneous manifestations of COVID‐19 in children after thorough and critical review of articles published in the literature and from the personal experience of a large panel of paediatric dermatologists in Europe. In Part 1, we discussed one of the first and most widespread cutaneous manifestations of COVID‐19, chilblain‐like lesions. In this part of the review, we describe other manifestations, including erythema multiforme, urticaria and Kawasaki disease‐like inflammatory multisystemic syndrome. In Part 3, we discuss the histological findings of COVID‐19 manifestations, and the testing and management of infected children for both COVID‐19 and any other pre‐existing conditions. Click here for the corresponding questions to this CME article. [ABSTRACT FROM AUTHOR]

Published
2021
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41. Skin manifestations of COVID‐19 in children: Part 1.

Author

Andina, D., Belloni‐Fortina, A., Bodemer, C., Bonifazi, E., Chiriac, A., Colmenero, I., Diociaiuti, A., El‐Hachem, M., Fertitta, L., Gysel, D., Hernández‐Martín, A., Hubiche, T., Luca, C., Martos‐Cabrera, L., Maruani, A., Mazzotta, F., Akkaya, A. D., Casals, M., Ferrando, J., and Grimalt, R.

Subjects
CUTANEOUS manifestations of general diseases, COVID-19, COVID-19 pandemic, MUCOCUTANEOUS lymph node syndrome, URTICARIA, SARS-CoV-2, SYMPTOMS
Abstract

Summary: The current COVID‐19 pandemic is caused by the SARS‐CoV‐2 coronavirus. The initial recognized symptoms were respiratory, sometimes culminating in severe respiratory distress requiring ventilation, and causing death in a percentage of those infected. As time has passed, other symptoms have been recognized. The initial reports of cutaneous manifestations were from Italian dermatologists, probably because Italy was the first European country to be heavily affected by the pandemic. The overall clinical presentation, course and outcome of SARS‐CoV‐2 infection in children differ from those in adults as do the cutaneous manifestations of childhood. In this review, we summarize the current knowledge on the cutaneous manifestations of COVID‐19 in children after thorough and critical review of articles published in the literature and from the personal experience of a large panel of paediatric dermatologists in Europe. In Part 1, we discuss one of the first and most widespread cutaneous manifestation of COVID‐19, chilblain‐like lesions. In Part 2, we review other manifestations, including erythema multiforme, urticaria and Kawasaki disease‐like inflammatory multisystemic syndrome, while in Part 3, we discuss the histological findings of COVID‐19 manifestations, and the testing and management of infected children, for both COVID‐19 and any other pre‐existing conditions. Click here for the corresponding questions to this CME article. [ABSTRACT FROM AUTHOR]

Published
2021
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42. Immunological and virological profile of children with chilblain‐like lesions and SARS‐CoV‐2.

Author

Fertitta, L., Welfringer‐Morin, A., Ouedrani, A., Polivka, L., Chhun, S., Chatenoud, L., Fourgeaud, J., Hadj‐Rabia, S., Temmam, S., Eloit, M., Sermet‐Gaudelus, I., and Bodemer, C.

Subjects
*SARS-CoV-2, *URTICARIA
Abstract

In 23/30 patients (77%) and 14/17 (82%) of chilblains patients, COVID-19 was suspected in at least one first-degree relative and confirmed in four including two with chilblains. A clinical, histopathological and laboratory study of 19 consecutive Italian paediatric patients with chilblain-like lesions: lights and shadows on the relationship with COVID-19 infection. Serology was positive in only 1/16 chilblains patient among the 26 patients tested. [Extracted from the article]

Published
2021
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