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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/01/2006
Symbol APSS
Location 15q15
Name acral peeling skin syndrome
Corresponding gene TGM5
Main clinical features shedding of the outer epidermis with dorsa of the hands and feet predominantly affected, periodic, painless, and superficial skin peeling, exacerbated by elevated ambient temperature and humidity, at histologic and ultrastructural analyses the level of blistering is high in the epidermis, at the junction of the stratum granulosum (the last living layer) and the stratum corneum (the terminally differentiated and continuously shed, cornified squamous layers)
Genetic determination autosomal recessive
Function/system disorder dermatology
Type disease
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function G113C, completely abolishes TG5 activity