Hypohidrotic ectodermal dysplasia (Q46644): 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 | ||
Displasia ectodérmica hipoidrótica é um transtorno genético do desenvolvimento do ectoderma caracterizada por malformação de estruturas ectodérmicas, como pele, cabelos, dentes e glândulas sudoríparas. Compreende três subtipos clinicamente quase indistinguíveis com sudorese comprometida como o sintoma principal: síndrome de Christ-Siemens-Touraine (ligada ao X), displasia ectodérmica hipoidrótica autossômica autossômica recessiva e autossômica dominante, bem como um quarto subtipo raro com imunodeficiência como sintoma principal. | |||
| description / en | description / en | ||
Hypohidrotic ectodermal dysplasia is a genetic disorder of ectoderm development characterised by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine syndrome (X-linked), autosomal recessive and autosomal dominant hypohidrotic ectodermal dysplasia, as well as a fourth rare subtype with immunodeficiency as the key symptom. | |||
Revision as of 15:22, 13 August 2026
Hypohidrotic ectodermal dysplasia is a genetic disorder of ectoderm development characterised by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine syndrome (X-linked), autosomal recessive and autosomal dominant hypohidrotic ectodermal dysplasia, as well as a fourth rare subtype with immunodeficiency as the key symptom.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD27.02 |
||
| English | Hypohidrotic ectodermal dysplasia |
Hypohidrotic ectodermal dysplasia is a genetic disorder of ectoderm development characterised by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine syndrome (X-linked), autosomal recessive and autosomal dominant hypohidrotic ectodermal dysplasia, as well as a fourth rare subtype with immunodeficiency as the key symptom. |
