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GENATLAS PHENOTYPE
last update : 26-03-2010
Symbol EPPK
Location 17q21.1-q21.2
Name palmoplantar keratoderma, epidermolytic
Other name(s)
  • hyperkeratosis, localized epidermolytic
  • palmoplantar keratoderma, Vörner type
  • keratosis of Greither
  • Corresponding gene KRT9
    Main clinical features
  • characterized by diffuse yellow thickening of the skin of the palms and soles, sharply bordered with erythematous margins, histologically and ultrastructurally, presents cytolysis of keratinocytes and abnormal aggregation of tonofilaments in the suprabasal layers of the epidermis
  • late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis
  • Genetic determination autosomal dominant
    Related entries some non epidermolytic focal forms and form with knuckle pads only and unilateral palmoplantar verrucous nevus
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 9, type I (KRT9)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion     in exon 1, in the helix initiation motif of keratin 9
    Remark(s)