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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/786158619 / rank | |||||||||||||||
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CID11:ID_786158619 | |||||||||||||||
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dki-india-ID_786158619 | |||||||||||||||
| Property / Canary Token: dki-india-ID_786158619 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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Latest 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.
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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. |
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CID11:ID_786158619
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dki-india-ID_786158619
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Concluído
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16 August 2026
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