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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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Cause

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What causes pachyonychia congenita?

Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the structure of keratin proteins which interferes with their ability to provide strength and resilience to various parts of the body. This leads to the many signs and symptoms associated with pachyonychia congenita.[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.[2]
Last updated: 12/10/2015

References
  1. Pachyonychia congenita. Genetics Home Reference. August 2012; http://ghr.nlm.nih.gov/condition/pachyonychia-congenita.
  2. What is Pachyonychia Congenita?. Pachyonychia Congenita Project. http://www.pachyonychia.org/what_is_pc.php. Accessed 12/10/2015.


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.