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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pachyonychia congenita


Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
  • PC
Related Diseases
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Tests & Diagnosis

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Is genetic testing available for pachyonychia congenita?

Yes, genetic testing is available for the five genes known to cause pachyonychia congenita.[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 12/10/2015

How is pachyonychia congenita diagnosed?

A diagnosis of pachyonychia congenita (PC) is often suspected based on the presence of characteristic signs and symptoms. In fact, one study found that approximately 97% of people with genetically confirmed PC have toenail thickening, plantar keratoderma (thickening of the skin on the soles of the feet) and plantar pain by age ten.[1][2]

Identification of a change (mutation) in one of the five genes associated with PC confirms the diagnosis. [1][3]

Last updated: 12/10/2015

References
  1. Frances JD Smith, PhD, C David Hansen, MD, Peter R Hull, MD, PhD, FRCPC, Roger L Kaspar, PhD, Mary E Schwartz, LLD, WH Irwin McLean, DSc, FRSE, Leonard M Milstone, MD, Maurice van Steensel, MD, PhD, Edel O’Toole, MD, PhD, FRCPI, FRCP, and Eli Sprecher, MD, PhD. Pachyonychia Congenita. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1280/.
  2. What is Pachyonychia Congenita?. Pachyonychia Congenita Project. http://www.pachyonychia.org/what_is_pc.php. Accessed 12/10/2015.
  3. Newly Diagnosed With PC. Pachyonychia Congenita Project. http://www.pachyonychia.org/newly_diagnosed_with_pc.php. Accessed 12/10/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
  • PC
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.