Acantholytic epidermolysis bullosa (Q99250): Difference between revisions
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Revision as of 15:55, 16 August 2026
A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal cohesion. It normally leads to premature death in the neonatal period.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2082436712 |
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| English | Acantholytic epidermolysis bullosa |
A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal cohesion. It normally leads to premature death in the neonatal period. |
