The International PC Research Registry collects patient data on pachyonychia congenita and other rare skin conditions with palmoplantar keratoderma which guides research and drug development.
If you have a specific data inquiry or would like to request permission to use PC Project’s data, please contact us at info@pachyonychia.org. For information on other palmoplantar keratoderma disorders in the registry, visit the other-conditions-with-painful-ppk page.
Pachyonychia Congenita Genes & Mutations
The above chart lists those fully enrolled in the International Pachyonychia Congenita Research Registry (IPCRR) with confirmed PC mutations. The chart includes a list of each mutation for the five PC genes and the number of individuals/families for each one. For an interactive experience, click the view interactive content button. You can then click on a specific gene and it will filter out the others. You can also sort by any of the columns.
Location & Demographics for PC mutations
The above chart lists those fully enrolled in the IPCRR with confirmed PC mutations. For an interactive experience, click the view interactive content button. You can then click on a specific country, and it will filter out the others. You can also sort by any of the columns. Go to the second page to see demographics.
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.
