Skin fragility-woolly hair syndrome (Q84631): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Knowledge Architect | |||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||
Normal rank | |||
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 |
|---|---|---|---|
| default for all languages | ID_300709759 |
||
| 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. |
Statements
CID11:ID_300709759
0 references
dki-india-ID_300709759
0 references
Concluído
0 references
