Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
October 2005
in “
Journal of the American Academy of Dermatology
”
TLDR Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
Rapp-Hodgkin syndrome (RHS) is a form of hypohidrotic ectodermal dysplasia characterized by cleft lip/palate, which shares clinical features with AEC and EEC syndromes. Unique traits like ectrodactyly in EEC and ankyloblepharon in AEC help differentiate these conditions. RHS is identified by ectodermal dysplasia, oral clefting, and distinctive facial features. Genetic studies revealed that RHS, AEC, and EEC are part of a phenotypic spectrum of a single genetic disorder linked to TP63 gene mutations, suggesting they are variable expressions of the same condition.
