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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-11-2012
Symbol PPPK1
Location 15q22-q24
Name keratosis palmoplantaris papulosa 1
Other name(s)
  • punctate palmoplantar keratoderma, type I
  • keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
  • Corresponding gene AAGAB
    Main clinical features
  • onset between ages 12 and 30 years, multiple tiny punctate keratoses over the entire palmoplantar surfaces, coalescence of the punctate keratoses into a more diffuse pattern over the pressure points of the sole, and variable nail changes
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
  • AAGAB deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation.(PMID: 23064416))