• A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2021
• A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT616, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails.
  NCI Thesaurus
  U.S. National Cancer Institute, 2021
• Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.
  GeneReviews
  University of Washington, 2021
• Pachyonychia congenita is a rare genodermatosis due to mutations in one of 4 keratin genes. It is characterized by dystrophic, thickened nails and painful palmoplantar keratoderma.
  Medscape
  WebMD, 2019
• Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma)....
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences