Epidermolysis bullosa simplex, localised (Q106959)
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Localised epidermolysis bullosa simplex (EBS-loc), formerly known as EBS Weber-Cockayne, is an autosomal dominant basal subtype of EBS due to mutations in the KRT5 and KRT14 genes encoding keratins 5 and 14 respectively. The disease is characterised by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_786158619 |
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| English | Epidermolysis bullosa simplex, localised |
Localised epidermolysis bullosa simplex (EBS-loc), formerly known as EBS Weber-Cockayne, is an autosomal dominant basal subtype of EBS due to mutations in the KRT5 and KRT14 genes encoding keratins 5 and 14 respectively. The disease is characterised by blisters occurring mainly on the palms and soles, exacerbated by warm weather. |
