Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <i>HRAS</i>‐positive variant patients - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of the European Academy of Dermatology and Venereology Année : 2024

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

Fanny Morice‐picard
Sébastien Barbarot
Hélène Aubert
Damien Bodet
  • Fonction : Auteur
Hugues Roger
  • Fonction : Auteur
Yoann Vial
Hélène Cavé

Résumé

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.
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hal-04613110 , version 1 (15-06-2024)

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Didier Bessis, Anne‐claire Bursztejn, Fanny Morice‐picard, Yline Capri, Sébastien Barbarot, et al.. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients. Journal of the European Academy of Dermatology and Venereology, 2024, Online ahead of print. ⟨10.1111/jdv.19996⟩. ⟨hal-04613110⟩
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