Ectodermal dysplasia – skin fragility syndrome (Q83165)

Ectodermal dysplasia-skin fragility syndrome is a rare form of suprabasal epidermolysis bullosa due to reduced or absent plakophilin 1 as the result of mutations in the PKP1 gene. It is characterised by erosions and crusting of the skin, nail dystrophy, sparse woolly hair and hyperkeratosis of the palms and soles.