Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin, nails, and mouth. It is caused by a mutation in any one of four genes that code for keratin proteins. Keratins are proteins that form tough fibers that strengthen skin and things that grow out of the skin, such as hair and finger nails. Although mutations in different keratins can cause many disorders, only mutations in keratins 6a, 6b, 16, and 17 are linked to PC. This disorder does not affect lifespan, but patients do experience constant pain. Keratins are a family of related proteins with about 54 members. The keratin genes are located in two clusters, one cluster on chromosome 12 and another on chromosome 17.
