Dominant dystrophic epidermolysis bullosa, generalised (Q96100): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Epidermólise bolhosa distrófica dominante generalizada manifesta-se como bolhas e cicatrizes induzidas por traumatismo mais proeminentes sobre as proeminências ósseas, especialmente dorso das mãos, joelhos, tornozelos e pés. É devida a uma ausência de colágeno tipo VII como resultado de mutações no gene COL7A1. | |||
| description / en | description / en | ||
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene. | |||
Revision as of 11:58, 16 August 2026
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1235671891 |
||
| English | Dominant dystrophic epidermolysis bullosa, generalised |
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene. |
