Preferred Label : Acral skin peeling syndrome;
ICD-11 definition : 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.;
ICD-11 synonym : APSS;
Origin ID : 1869724137;
Automatic exact mappings (from CISMeF team)
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.
