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GENATLAS PHENOTYPE

last update : 01-09-2009

Symbol	PSEK2
Location	1p35-p34
Name	progressive symetric erythrokeratoderma 2 of Gottron
Corresponding gene	GJB4
Main clinical features	widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratodermia non migratory erythematous plaques shortly after birth and distributed symmetrically over the body, particularly on the extremities, the buttocks, and sometimes the face, together with palmoplantar keratodermia
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

the same GJB4 mutation may cause either an EKV or a PSEK phenotype (van Steesel 2009)