Acral skin peeling syndrome (Q83638): Difference between revisions

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Latest 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
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.