Acral skin peeling syndrome (Q83638): Difference between revisions
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A síndrome da descamação da pele acral é causada por mutações no gene TGM5, cujo produto é a transglutaminase 5, uma enzima que desempenha um papel crítico na formação do envelope celular cornificado que envolve os queratinócitos na epiderme superior e é vital para a integridade da epiderme. A descamação da pele geralmente é evidente desde o nascimento e é mais perceptível nas mãos e nos pés. | |||
| description / en | description / en | ||
Acral peeling skin syndrome is caused by mutations in the TGM5 gene, the product of which is transglutaminase 5, an enzyme which plays a critical role in the formation of the cornified cell envelope which surrounds keratinocytes in the upper epidermis and is vital to epidermal integrity. Skin peeling is usually evident from birth and is most noticeable on the hands and feet. | |||
Revision as of 09:00, 15 August 2026
Acral peeling skin syndrome is caused by mutations in the TGM5 gene, the product of which is transglutaminase 5, an enzyme which plays a critical role in the formation of the cornified cell envelope which surrounds keratinocytes in the upper epidermis and is vital to epidermal integrity. Skin peeling is usually evident from birth and is most noticeable on the hands and feet.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1869724137 |
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| English | Acral skin peeling syndrome |
Acral peeling skin syndrome is caused by mutations in the TGM5 gene, the product of which is transglutaminase 5, an enzyme which plays a critical role in the formation of the cornified cell envelope which surrounds keratinocytes in the upper epidermis and is vital to epidermal integrity. Skin peeling is usually evident from birth and is most noticeable on the hands and feet. |
