Skin fragility-woolly hair syndrome (Q84631): Difference between revisions
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Revision as of 09:58, 15 August 2026
A rare autosomal recessive form of suprabasal epidermolysis bullosa due to mutations in the DSP gene encoding desmoplakin. It presents in early infancy with cutaneous, erosions and crusts, sparse woolly hair and palmoplantar keratoderma.
| Language | Label | Description | Also known as |
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| default for all languages | ID_300709759 |
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| English | Skin fragility-woolly hair syndrome |
A rare autosomal recessive form of suprabasal epidermolysis bullosa due to mutations in the DSP gene encoding desmoplakin. It presents in early infancy with cutaneous, erosions and crusts, sparse woolly hair and palmoplantar keratoderma. |
