Ectodermal dysplasia – skin fragility syndrome (Q83165)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1711575115 |
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| 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. |
