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

G. Weiss*, Y. Confino, A. Shemer, H. Trau

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

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.

Original languageEnglish
Pages (from-to)324-327
Number of pages4
JournalJournal of the European Academy of Dermatology and Venereology
Volume18
Issue number3
DOIs
StatePublished - May 2004

Keywords

  • CFC
  • Cardiofaciocutaneous
  • Costello
  • Noonan
  • Review
  • Syndrome

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