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Your search keyword '"Hickman, Geoffroy"' showing total 16 results
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16 results on '"Hickman, Geoffroy"'

1. Sexually Transmitted Trichophyton mentagrophytes Genotype VII Infection among Men Who Have Sex with Men

Author

Jabet, Arnaud, Delliere, Sarah, Seang, Sophie, Chermak, Aziza, Schneider, Luminita, Chiarabini, Thibault, Teboul, Alexandre, Hickman, Geoffroy, Bozonnat, Alizee, Brin, Cecile, Favier, Marion, Tamzali, Yanis, Chasset, Francois, Barete, Stephane, Hamane, Samia, Benderdouche, Mazzouz, Moreno- Sabater, Alicia, Dannaoui, Eric, Hennequin, Christophe, Fekkar, Arnaud, Piarroux, Renaud, Normand, Anne-Cecile, and Monsel, Gentiane

Subjects
Diagnosis, Health aspects, Causes of, Sexually transmitted diseases -- Causes of -- Diagnosis, Disease transmission -- Causes of, MSM (Men who have sex with men) -- Health aspects, Dermatomycoses -- Causes of -- Diagnosis
Abstract

Dermatophytes are keratinophilic fungi responsible for frequent skin infections. They are transmitted either by direct contact from an infected host (human or animal) to a receptive host or from the [...]

Published
2023
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2. AQP5 , a second gene at play with CFTR in aquagenic palmoplantar keratoderma

Author

Sperelakis‐Beedham, Brian, primary, Lopez, Maureen, additional, Bourrat, Emmanuelle, additional, Gaitch, Natacha, additional, Houriez, Florence, additional, Martinez, Brigitte, additional, Fajac, Isabelle, additional, Burgel, Pierre‐Régis, additional, Hickman, Geoffroy, additional, Audrézet, Marie‐Pierre, additional, Gonde, Delphine, additional, Cabet, Faiza, additional, Gerfaud‐Valentin, Mathieu, additional, Nove‐Josserand, Raphaele, additional, Raynal, Caroline, additional, Pagin, Adrien, additional, Reboul, Marie‐Pierre, additional, de Becdelièvre, Alix, additional, Bienvenu, Thierry, additional, Callebaut, Isabelle, additional, and Girodon, Emmanuelle, additional

Published
2023
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5. Acrogeria, an exceptional cause of acro-osteolysis.

Author

Valayer, Simon, Hickman, Geoffroy, Petit, Antoine, Solal, Martine Cohen, De Sandre Giovannoli, Annachiara, and Bourrat, Emmanuelle

Subjects
*MEDICAL genetics, *INFORMED consent (Medical law)
Abstract

The article discusses a rare genetic condition called acrogeria, which is characterized by the resorption of bones in the distal phalanges. It is caused by a mutation in the LMNA gene and shares similarities with other laminopathies. The article describes a case of acrogeria in a 35-year-old woman from South Korea and highlights the clinical features and diagnostic methods used. Acrogeria is distinguished by its unique distribution of progeroid traits and the absence of widespread osteoporosis. The article emphasizes the importance of considering cardiovascular complications in patients with acrogeria. [Extracted from the article]

Published
2024
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8. Severe Phenotype in Patients with Large Deletions of NF1

Author

Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Coeslier, Anne Dieux, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Network, members of the NF France, Wolkenstein, Pierre, and Pasmant, Eric

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular abnormalities, dysmorphism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, NF1 deletion, genotype–phenotype correlation, skeletal abnormalities, neurofibromatosis type 1, eye diseases, nervous system diseases, NF1, neurofibromas, NFs, MPNSTs, learning disabilities, malignant peripheral nerve sheath tumors, tumor predisposition, neoplasms, RC254-282
Abstract

Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts are still missing to fully characterize this contiguous gene syndrome. NF1-deleted patients were enrolled and phenotypically characterized with a standardized questionnaire between 2005 and 2020 from a large French NF1 cohort. Statistical analyses for main NF1-associated symptoms were performed versus an NF1 reference population. A deletion of the NF1 gene was detected in 4% (139/3479) of molecularly confirmed NF1 index cases. The median age of the group at clinical investigations was 21 years old. A comprehensive clinical assessment showed that 93% (116/126) of NF1-deleted patients fulfilled the NIH criteria for NF1. More than half had café-au-lait spots, skinfold freckling, Lisch nodules, neurofibromas, neurological abnormalities, and cognitive impairment or learning disabilities. Comparison with previously described “classic” NF1 cohorts showed a significantly higher proportion of symptomatic spinal neurofibromas, dysmorphism, learning disabilities, malignancies, and skeletal and cardiovascular abnormalities in the NF1-deleted group. We described the largest NF1-deleted cohort to date and clarified the more severe phenotype observed in these patients.

Published
2021

11. Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

Author

Ballin, Nadja, primary, Hotz, Alrun, additional, Bourrat, Emmanuelle, additional, Küsel, Julia, additional, Oji, Vinzenz, additional, Bouadjar, Bakar, additional, Brognoli, Davide, additional, Hickman, Geoffroy, additional, Heinz, Lisa, additional, Vabres, Pierre, additional, Marrakchi, Slaheddine, additional, Leclerc‐Mercier, Stéphanie, additional, Irvine, Alan, additional, Tadini, Gianluca, additional, Hamm, Henning, additional, Has, Cristina, additional, Blume‐Peytavi, Ulrike, additional, Mitter, Diana, additional, Reitenbach, Marina, additional, Hausser, Ingrid, additional, Zimmer, Andreas D., additional, Alter, Svenja, additional, and Fischer, Judith, additional

Published
2019
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12. Acquired bullous dermatosis associated with IgA multiple myeloma

Author

Battistella, Maxime, Hickman, Geoffroy, Petit, Antoine, Asli, Bouchra, Bouaziz, Jean-David, Janin, Anne, and Bagot, Martine

Subjects
Diagnosis, Care and treatment, Research, Risk factors, Health aspects, Immunoglobulin A -- Health aspects, Multiple myeloma -- Risk factors -- Diagnosis -- Care and treatment -- Research
Published
2013

14. Arterial aneurysm with distal ischemia in a renal allografted patient: beware of angiosarcoma

Author

Baroudjian, Barouyr, additional, Battistella, Maxime, additional, Mourah, Samia, additional, Hickman, Geoffroy, additional, Pages, Cécile, additional, Moulonguet, Isabelle, additional, Koskas, Fabien, additional, Gaudric, Julien, additional, Le Maignan, Christine, additional, Dantal, Jacques, additional, Bagot, Martine, additional, Petit, Antoine, additional, and Lebbe, Celeste, additional

Published
2013
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16. Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin.

Author

Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, and Fischer J

Subjects
DNA Mutational Analysis, Genitalia, Humans, Mutation, Skin, Porokeratosis diagnosis, Porokeratosis genetics
Abstract

Porokeratoses are a heterogeneous group of keratinization disorders. For linear porokeratosis and disseminated superficial actinic porokeratosis, a heterozygous pathogenic germline variant in a mevalonate pathway gene and a postzygotic second hit mutation present in affected skin have been shown to be the patho-genetic mechanism for the development of the lesions. However, the molecular mechanism leading to development of porokeratosis plantaris, palmaris et disseminata is not known. This study analysed a cohort of 4 patients with linear porokeratosis and 3 patients with porokeratosis plantaris, palmaris et disseminata, and performed mutation analyses of DNA extracted from blood samples and skin biopsies. All of the study patients carried the heterozygous germline variant c.70+5G>A in the MVD gene. Loss of heterozygosity due to a second hit mutation was found in affected skin of 3 patients with linear porokeratosis and 2 patients with porokeratosis plantaris, palmaris et disseminata. These results suggest that porokeratosis plantaris, palmaris et disseminata shares the same pathogenetic mechanism as other porokeratosis subtypes and belongs to the phenotypic spectrum of MVD-associated porokeratosis.

Published
2021
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