Didier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, Yline Capri, Sébastien Barbarot, Hélène Aubert, Damien Bodet, Emmanuelle Bourrat, Christine Chiaverini, Laura Poujade, Marjolaine Willems, Jacques Rouanet, Anne Dompmartin-Blanchère, David Geneviève, Marion Gerard, Emmanuelle Ginglinger, Smaïl Hadj-Rabia, Ludovic Martin, Juliette Mazereeuw-Hautier, Nathalie Bibas, Nicolas Molinari, Fanchon Herman, Alice Phan, Julien Rod, Hugues Roger, Sabine Sigaudy, Alban Ziegler, Yoann Vial, Alain Verloes, Hélène Cavé, Didier Lacombe
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...
April 10, 2024: Journal of the European Academy of Dermatology and Venereology: JEADV