Epidermolytic ichthyosis (Q62720): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
Ictiose epidermolítica é um transtorno genético da pele causado por mutações no gene da queratina 10 (KRT10). A herança geralmente é autossômica dominante, mas até 50% dos casos são esporádicos. Pode se manifestar ao nascimento com eritrodermia e grave formação de bolhas, mas com a idade as bolhas tendem a ser menos graves e o eritema menos proeminente. Hiperceratose progressiva se desenvolve, acentuada nas flexuras articulares. A expectativa de vida é geralmente normal, embora a doença possa ser gravemente incapacitante. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Epidermolytic ichthyosis is a genetic skin disorder due to mutations in the keratin 10 gene (KRT10). Inheritance is usually autosomal dominant but up to 50% of cases are sporadic. It may manifest at birth with erythroderma and severe blistering but with age blistering tends to be less severe and erythema less prominent. Progressive hyperkeratosis develops, accentuated at joint flexures. Life expectancy is usually normal although the disease can be severely incapacitating. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1183730789 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1183730789 | |||||||||||||||
| Property / CURIE: CID11:ID_1183730789 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1183730789 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1183730789 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 10:12, 14 August 2026
Epidermolytic ichthyosis is a genetic skin disorder due to mutations in the keratin 10 gene (KRT10). Inheritance is usually autosomal dominant but up to 50% of cases are sporadic. It may manifest at birth with erythroderma and severe blistering but with age blistering tends to be less severe and erythema less prominent. Progressive hyperkeratosis develops, accentuated at joint flexures. Life expectancy is usually normal although the disease can be severely incapacitating.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1183730789 |
||
| English | Epidermolytic ichthyosis |
Epidermolytic ichthyosis is a genetic skin disorder due to mutations in the keratin 10 gene (KRT10). Inheritance is usually autosomal dominant but up to 50% of cases are sporadic. It may manifest at birth with erythroderma and severe blistering but with age blistering tends to be less severe and erythema less prominent. Progressive hyperkeratosis develops, accentuated at joint flexures. Life expectancy is usually normal although the disease can be severely incapacitating. |
Statements
CID11:ID_1183730789
0 references
dki-india-ID_1183730789
0 references
Concluído
0 references
13 August 2026
0 references
