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

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.

• Authors: G Weiss, Y Confino, A Shemer, H Trau
• Journal: Journal of the European Academy of Dermatology and Venereology : JEADV (J Eur Acad Dermatol Venereol) Vol. 18 Issue 3 Pg. 324-7 (May 2004) ISSN: 0926-9959 [Print] England
• PMID: 15096145 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (diagnosis)
• Child
• Craniofacial Abnormalities (complications, diagnosis)
• Diagnosis, Differential
• Heart Defects, Congenital (complications, diagnosis)
• Humans
• Intellectual Disability (complications, diagnosis)
• Male
• Noonan Syndrome (diagnosis)
• Prognosis
• Risk Assessment
• Severity of Illness Index
• Skin Abnormalities (complications, diagnosis)
• Syndrome