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GENATLAS PHENOTYPE

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

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	G113C, completely abolishes TG5 activity