Journal of the European Academy of Dermatology and Venereology : JEADV · 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Bessis Didier, Bursztejn Anne-Claire, Morice-Picard Fanny, Capri Yline, Barbarot Sébastien, Aubert Hélène, Bodet Damien, Bourrat Emmanuelle, Chiaverini Christine, Poujade Laura, Willems Marjolaine, Rouanet Jacques, Dompmartin-Blanchère Anne, Geneviève David, Gerard Marion, Ginglinger Emmanuelle, Hadj-Rabia Smaïl, Martin Ludovic, Mazereeuw-Hautier Juliette, Bibas Nathalie, Molinari Nicolas, Herman Fanchon, Phan Alice, Rod Julien, Roger Hugues, Sigaudy Sabine, Ziegler Alban, Vial Yoann, Verloes Alain, Cavé Hélène, Lacombe Didier
Аннотация
BACKGROUND: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description.
OBJECTIVES: 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.
METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study.
RESULTS: 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).
CONCLUSIONS AND RELEVANCE: 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.
OBJECTIVES: 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.
METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study.
RESULTS: 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).
CONCLUSIONS AND RELEVANCE: 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.
Предметные рубрики MeSH
HumansCostello SyndromeProspective StudiesFemaleMaleChildProto-Oncogene Proteins p21(ras)AdolescentChild, PreschoolAdultYoung AdultEctodermal DysplasiaNoonan SyndromeAcanthosis NigricansDiagnosis, DifferentialKeratoderma, PalmoplantarHeart Defects, CongenitalPhenotypePapillomaAcitretinEyebrowsFailure to ThriveInfantKeratolytic AgentsFacies