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Pachyonychia congenita
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Overview
Pachyonychia congenita (PC) is a very rare inherited condition that primarily affects the nails and skin. The fingernails and toenails are usually thickened and abnormally shaped. Affected individuals may also develop painful calluses and blisters on the soles of their feet and palms of their hands (palmoplantar keratoderma). Additional features include white patches on the tongue and inside of the mouth; bumps around the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms or soles of the feet. Features may vary among affected individuals.[1]
Two major types of this condition have been described: pachyonychia congenita type 1 (PC-1) and pachyonychia congenita type 2 (PC-2). PC is caused by a mutation in one of four genes. Mutations in the KRT6A and KRT16 gene cause PC-1; mutations in KRT6B and KRT17 result in PC-2.[1]
Two major types of this condition have been described: pachyonychia congenita type 1 (PC-1) and pachyonychia congenita type 2 (PC-2). PC is caused by a mutation in one of four genes. Mutations in the KRT6A and KRT16 gene cause PC-1; mutations in KRT6B and KRT17 result in PC-2.[1]
References
- Pachyonychia congenita. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/pachyonychia-congenita. Accessed May 4, 2011.
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General Information
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. Click on the link to view the information.
- Genetics Home Reference (GHR) contains information on Pachyonychia congenita. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pachyonychia congenita. Click on the link to go to OMIM and review these resources.