Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis"

J Dermatol. 2016 Mar;43(3):264-74. doi: 10.1111/1346-8138.13219.


Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.

Keywords: diffuse; focal; punctate; striate; transgrediens.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Keratoderma, Palmoplantar / classification
  • Keratoderma, Palmoplantar / diagnosis*
  • Keratoderma, Palmoplantar / genetics*
  • Mutation
  • Phenotype