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Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

dc.rights.licenseopenen_US
dc.contributor.authorBESSIS, Didier
dc.contributor.authorBURSZTEJN, Anne-Claire
hal.structure.identifierService de dermatologie [Bordeaux]
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierService de dermatologie Hôpital Saint-André Bordeaux
hal.structure.identifierCHU Bordeaux
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierThérapie génique, Génomique et Epigénomique [U 1169]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorCAPRI, Yline
dc.contributor.authorBARBAROT, Sébastien
dc.contributor.authorAUBERT, Hélène
dc.contributor.authorBODET, Damien
dc.contributor.authorBOURRAT, Emmanuelle
dc.contributor.authorCHIAVERINI, Christine
dc.contributor.authorPOUJADE, Laura
dc.contributor.authorWILLEMS, Marjolaine
dc.contributor.authorROUANET, Jacques
dc.contributor.authorDOMPMARTIN-BLANCHÈRE, Anne
dc.contributor.authorGENEVIÈVE, David
dc.contributor.authorGERARD, Marion
dc.contributor.authorGINGLINGER, Emmanuelle
dc.contributor.authorHADJ-RABIA, Smaïl
dc.contributor.authorMARTIN, Ludovic
dc.contributor.authorMAZEREEUW-HAUTIER, Juliette
dc.contributor.authorBIBAS, Nathalie
dc.contributor.authorMOLINARI, Nicolas
dc.contributor.authorHERMAN, Fanchon
dc.contributor.authorPHAN, Alice
dc.contributor.authorROD, Julien
dc.contributor.authorROGER, Hugues
dc.contributor.authorSIGAUDY, Sabine
dc.contributor.authorZIEGLER, Alban
dc.contributor.authorVIAL, Yoann
dc.contributor.authorVERLOES, Alain
dc.contributor.authorCAVÉ, Hélène
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU Bordeaux
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU de Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.date.accessioned2024-07-18T07:55:28Z
dc.date.available2024-07-18T07:55:28Z
dc.date.issued2024-04-10
dc.identifier.issn1468-3083en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/201019
dc.description.abstractEnData on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations. We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study. Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.title.enDermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
dc.title.alternativeJ Eur Acad Dermatol Venereolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/jdv.19996en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologie/Dermatologieen_US
dc.identifier.pubmed38595321en_US
bordeaux.journalJournal of the European Academy of Dermatology and Venereologyen_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-NDen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal%20of%20the%20European%20Academy%20of%20Dermatology%20and%20Venereology&rft.date=2024-04-10&rft.eissn=1468-3083&rft.issn=1468-3083&rft.au=BESSIS,%20Didier&BURSZTEJN,%20Anne-Claire&MORICE-PICARD,%20Fanny&CAPRI,%20Yline&BARBAROT,%20S%C3%A9bastien&rft.genre=article


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