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Punctate palmoplantar keratoderma type 2

Disease definition

Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.

ORPHA:79502

  • Synonym(s):
    • PPKP2
    • PPPP
    • Punctate palmoplantar hyperkeratosis type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: Q82.8
  • OMIM: 175860
  • UMLS: C1867982
  • MeSH: -
  • GARD: 4439
  • MedDRA: -

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