Epidermolysis bullosa simplex, localised (Q106959): Difference between revisions
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Epidermólise bolhosa simples localizada (EBS-loc), anteriormente conhecida como EBS Weber-Cockayne, é um subtipo basal autossômico dominante de EBS devido a mutações nos genes KRT5 e KRT14, que codificam as queratinas 5 e 14, respectivamente. A doença é caracterizada por bolhas que ocorrem principalmente nas palmas das mãos e solas dos pés, exacerbadas por clima quente. | |||
| description / en | description / en | ||
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. | |||
Revision as of 13:57, 17 August 2026
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 |
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| 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. |
