Other Names for this Disease
- Congenital pachyonychia
- Pachyonychia congenita syndrome
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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). 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 people depending on their specific mutation. PC is divided into 5 types based on the specific keratin gene involved: PC-K6a, PC-K6b, PC-K6c, PC-K16, and PC-K17. All forms are inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and
Last updated: 12/10/2015
- Pachyonychia congenita. Genetics Home Reference. August 2012; http://ghr.nlm.nih.gov/condition/pachyonychia-congenita.
- 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/.
- What is Pachyonychia Congenita?. Pachyonychia Congenita Project. http://www.pachyonychia.org/what_is_pc.php. Accessed 12/10/2015.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
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- 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.