Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.
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.
Weiss
G
G
Department of Dermatology, Sheba Medical Center, Tel Hashomer, Israel. teamsackler@aol.com
Confino
Y
Y
Shemer
A
A
Trau
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis*; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis*; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D012868:Skin Abnormalities / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome