Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature

• Published in: Journal of the European Academy of Dermatology and Venereology 2004-05, Vol.18 (3), p.324-327
• Main Authors: Weiss, G, Confino, Y, Shemer, A, Trau, H
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnosis; cardiofaciocutaneous; CFC; Child; Costello; Craniofacial Abnormalities - complications; Craniofacial Abnormalities - diagnosis; Diagnosis, Differential; Heart Defects, Congenital - complications; Heart Defects, Congenital - diagnosis; Humans; Intellectual Disability - complications; Intellectual Disability - diagnosis; Male; Noonan; Noonan Syndrome - diagnosis; Prognosis; review; Risk Assessment; Severity of Illness Index; Skin Abnormalities - complications; Skin Abnormalities - diagnosis; Syndrome
• ISSN: 0926-9959; 1468-3083
• DOI: 10.1111/j.1468-3083.2004.00365.x

ABSTRACT We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low‐set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome.