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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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Tests & Diagnosis

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How is pachyonychia congenita diagnosed?

A clinical diagnosis of this condition can usually be made based on the nail findings in association with painful palmoplantar keratoderma. Other clinical findings include blistering on the hands and feet; white patches on the tongue and inside of the mouth; bumps around the trunk and extremities; and cysts in the armpits, groin, back, or scalp. PC-2 might be suspected in individuals with additional findings such as natal or prenatal teeth, benign lesions on the body, and twisted hair.[1]

A diagnosis can also be made through genetic testing of the four keratin genes known to be associated with this condition.[1]
Last updated: 5/4/2011

Is genetic testing available for pachyonychia congenita?

Yes, genetic testing is available for this condition. GeneTests lists the names of laboratories that are performing genetic testing for pachyonychia congenita. To view the contact information for the clinical laboratories conducting testing for pachyonychia congenita type 1, click here. For clinical laboratories conducting testing for pachyonychia congenita type 2, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 5/4/2011

  1. Smith FJD, Kaspar RL, Schwartz ME, McLean WHI, Leachman SA. Pachyonychia Congenita. GeneReviews. June 2009; Accessed 5/4/2011.


  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.