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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pachyonychia congenita


Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
Related Diseases
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Treatment

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How might pachyonychia congenita be treated?

There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids to help with mobility, such as wheelchairs, crutches and/or canes.[1][2]

Pachyonychia Congenita Project offers more detailed information regarding the treatment and management of PC. Please click on the link to access this resource.
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. Goldberg I1, Fruchter D, Meilick A, Schwartz ME, Sprecher E. Best treatment practices for pachyonychia congenita. J Eur Acad Dermatol Venereol. March 2014; 28(3):279-285.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Pachyonychia congenita. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
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.