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

More general terms

• peeling skin syndrome (keratosis exfoliativa congenita)