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Genetic and Rare Diseases Information Center (GARD)

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Pachyonychia congenita


Other Names for this Disease

  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
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Overview

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 individuals also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected individuals depending on their specific mutation.[1] PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17. More than 100 mutations in these genes have been found to cause PC.[1][2]
Last updated: 6/5/2014

References

  1. Pachyonychia congenita. Genetics Home Reference. August 2012; http://ghr.nlm.nih.gov/condition/pachyonychia-congenita.
  2. What is Pachyonchia Congenita?. Pachyonchia Congenita Project. http://www.pachyonychia.org/what_is_pc.php. Accessed 6/5/2014.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Pachyonychia congenita. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pachyonychia congenita. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.