Ectodermal dysplasia – skin fragility syndrome (Q83165): Difference between revisions

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Latest revision as of 08:32, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1711575115
English	Ectodermal dysplasia – skin fragility syndrome	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.