" /> Ectodermal dysplasia – skin fragility syndrome - CISMeF





Preferred Label : Ectodermal dysplasia – skin fragility syndrome;

ICD-11 definition : 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.;

ICD-11 synonym : Plakophilin 1 deficiency; EBS-plakophilin; ED – SF - [Ectodermal dysplasia – skin fragility] syndrome (MIM 604536); Skin fragility - ectodermal dysplasia syndrome; ED – SF syndrome; ED – SF - [Ectodermal dysplasia – skin fragility] syndrome;

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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.

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07/05/2025


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