Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects

Rapp-Hodgkin syndrome (RHS) was characterized by hypohidrotic ectodermal dysplasia and cleft lip/palate, sharing clinical similarities with ankyloblepharon–ectodermal dysplasia–clefting syndrome (AEC) and ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC). While ectrodactyly was unique to EEC and ankyloblepharon to AEC, RHS was identified by a combination of ectodermal dysplasia, oral clefting, and distinctive facial features. Genetic studies revealed that AEC, EEC, and RHS were part of a phenotypic spectrum of a single genetic disorder linked to mutations in the TP63 gene, suggesting a genetic relationship among these syndromes, with RHS and AEC showing significant overlap.