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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-01-2009
Symbol PSEK1
Location 1q21.3
Name progressive symetric erythrokeratoderma 1
Corresponding gene LOR
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
    Gene product
    Name loricrin, major component of epidermal differential-complex (LOR)