PC Data

The IPCRR patient registry collects data on PC, which guides research and treatment development.

Please contact PC Project if you have a specific data inquiry at info@pachyonychia.org.

IPCRR PC Mutations chart Includes a list of each mutation for the five PC genes as well as the number of individuals/families for each one. Also, shows the percentages of identified patients by gene.

Use our Location and Demographic Charts to see a list of countries and states where confirmed PC patients reside. Also, there is an interactive map with the data from the location chart. Please note map locations are approximate based on the countries capital or state.

This Growth Chart  shows a history of individuals who are recorded with PC Project (red line). The yellow line shows those from the red line who completed all steps to join the International PC Research Registry (IPCRR) including the online questionnaire, consent form and sending photos. This includes those who are in the testing process, have confirmed PC or they have been diagnosed with a different disorder. The green line shows the count of those in the IPCRR who are genetically confirmed with PC.


PC Images show each of the five types of PC and the variations in the PC syndrome.





IPCRR Data Summaries

Each link below contains a summary of the IPCRR Data and observations about each gene.






PC All Genes


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.