Catalog

Ectodermal dysplasia – skin fragility syndrome

No MMS code

Link to WHO Definition

Ectodermal dysplasia – skin fragility syndrome – http://id.who.int/icd/entity/1711575115

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.