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

J Eur Acad Dermatol Venereol. 2004 May;18(3):324-7. 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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Child
  • 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 Syndrome / diagnosis*
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index
  • Skin Abnormalities / complications
  • Skin Abnormalities / diagnosis*
  • Syndrome