Cardio-facio-cutaneous syndrome with hemihidrosis: ectodermal dysplasias spectrum?

Abstract

Cardio-facio-cutaneouacio-cutaneous syndrome (CFCS) was first described in 1986 by Reynolds et al.1 and is characterized by facial dysmorphism, alterations of ectoderm derivates, congenital heart defects, growth failure, and severe mental retardation, sharing some features with Costello and Noonan syndromes.2 All reported cases have been sporadic without evidence of consanguinity or familial aggregation.3 Interest- ingly, even though the CFCS show ectoderm alterations, it has not been included as part of the ectodermal dysplasias (ED), because these abnormalities are considered minor.4 We report a patient with CFCS whose ectodermal abnor- malities, including hemihidrosis, place her in a middle point between ED and CFCS.