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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)