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peeling skin syndrome acral type
Pathology:
- ultrastructural & histological examination shows a level of blistering high in the epidermis at the stratum granulosum- stratum corneum junction
Genetics:
- autosomal recessive
- associated with defects in TGM5
Clinical manifestations:
- skin peeling is strictly limited to the dorsa of the hands & feet
General
peeling skin syndrome (keratosis exfoliativa congenita)
References
UniProt :accession O43548