If you received a genetic diagnosis that was not PC, please stay with us. You have a community here.
We are continually collecting valuable registry data about a number of other rare skin disorders, especially those with painful palmoplantar keratoderma (PPK). Many of the tips, tools, and experiences shared in the PC community and on this website may be helpful to you. We have much in common when it comes to dealing with these rare skin diseases and we care about you!
Nearly 20% of cases that are clinically diagnosed as Pachyonychia Congenita are actually other disorders. Because these patients received their diagnosis through the Patient Registry, we consider them – you – to be part of our community! We are aware of each of you and even discuss other PPK conditions on our monthly PC Genetics Team Meetings and at our annual IPCC Research Symposiums.
The following presentation is a fantastic presentation about different types of conditions that cause PPK, given by Professor Edel O’Toole, a member of PC Project’s Steering Committee and Medical and Scientific Advisory Board.
As we continue to gather information on these various diseases, we will link pages to help our entire rare skin disease community.
Our hope at PC Project is that by learning about other rare skin conditions with PPK, there will be crossover therapeutic applications for more than one disease. And if we learn of a study or a potential treatment that may help you and your specific condition, we will notify you.
Soon, we will be adding links to each disease gene name to provide more information for some of the genetically confirmed individuals in our patient registry that do not have PC, but another type of mutation that causes similar symptoms.
|Gene||# Tested in the Patient Registry|
|Connexin 30 (GJB6)||36|
|Desmoglein 1 (DSG1)||22|
|TRPV3 (Olmsted Syndrome)||17|