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

1 PCCEI - Pathogenesis and Control of Chronic and Emerging Infections
2 Hôpital Saint Eloi [CHU Montpellier]
3 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
4 CHU Montpellier = Montpellier University Hospital
5 Hôpital Pellegrin
6 AP-HP Hôpital universitaire Robert-Debré [Paris]
7 Hôpital Hôtel-Dieu [CHU Nantes]
8 Nantes Univ - Nantes Université
9 CHU Caen Normandie - CHU Caen Normandie – Centre Hospitalier Universitaire de Caen Normandie
10 UNICAEN - Université de Caen Normandie
11 Hôpital l'Archet
12 UniCA - Université Côte d'Azur
13 Hôpital Arnaud de Villeneuve [CHU Montpellier]
14 Service Dermatologie et Oncologie Cutanée [CHU Clermont-Ferrand]
15 CHU Estaing [Clermont-Ferrand]
16 Service de Génétique [CHU Caen]
17 Groupe hospitalier de la région de Mulhouse et Sud-Alsace
18 Hôpital Necker - Enfants Malades [AP-HP]
19 CHU Angers - Centre Hospitalier Universitaire d'Angers
20 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
21 IDESP - Institut Desbrest d'Epidémiologie et de Santé Publique
22 PREMEDICAL - Médecine de précision par intégration de données et inférence causale
23 Hôpital la Colombière [CHU Montpellier]
24 UM - Université de Montpellier
25 HFME - Hôpital Femme Mère Enfant [CHU - HCL]
26 Service de Chirurgie Pédiatrique [CHU Caen]
27 Auteur indépendant
28 Département de génétique médicale [Hôpital de la Timone - APHM]
29 AMU - Aix Marseille Université
30 Service de génétique [Angers]
31 UA - Université d'Angers
32 Département de génétique [Robert Debré]
33 CHU de Bordeaux Pellegrin [Bordeaux]
34 U1211 INSERM/MRGM - Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux)

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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