Variation in the PC syndrome

Variation in the PC syndrome

Dominant-negative mutations in any of the five identified keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17, cause pachyonychia congenita (PC), characterized by hypertrophic nail dystrophy and other ectodermal features. While there is a variety of patterns of palmoplantar keratoderma across the different genes and across the numerous mutations, the unbearable and debilitating pain is a main characteristic of all types PC.

For all types of PC, plantar pain is the most delibitating factor. While some social issues affect those with PC during childhood and teenage years, the thing all PC patients hope for is relief from pain.

We have posted IPCRR Data Summaries for each of the five PC genes with descriptive observations about each PC type as well as a summary of overall data from the IPCRR.