If you received a genetic diagnosis that was not PC, but another palmoplantar Epidermal Differentiation Disorder (pEDD), please stay with us—you have a community here.
We are continually collecting valuable registry data on 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. Some of these diseases share molecular pathways, which means a treatment that works for one may work for others. We have much in common when it comes to dealing with these rare skin diseases, and we care about you!
Nearly 20% of cases clinically diagnosed as Pachyonychia Congenita are other disorders, usually other types of PPK or pEDDs. Because these patients received their diagnosis through the PC Project Patient Registry, our team, including our researchers and medical professionals consider them – you – to be part of our community! We know each of you and regularly discuss all our PPK/pEDDs conditions at our monthly Genetics Team Meetings and at our annual Research Symposiums.
We invite all with PPK to join the registry.
Other affected genes variants found in the International PC Research Registry
Click on interactive chart below to sort any column or to filter by the specific gene to see the different variants represented in our registry.
The following video is a fantastic presentation about different conditions that cause PPK, given by Professor Edel O’Toole, a member of PC Project’s Steering Committee and Medical and Scientific Advisory Board.
Prof. Edel O’Toole
As we continue to gather information on these various diseases, we will link pages to help our entire rare PPK skin disease community.
Our hope at PC Project is that by learning about other rare skin conditions with PPK, we will find 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 mutation or condition, we will notify you.
We will continue adding content to the links below to provide information about the conditions or symptoms associated with each gene. This resource is especially for genetically confirmed individuals in our registry who do not have PC. It is intended for those with another mutation that causes similar features.
| Gene |
|---|
| AAGAB (Punctate) |
| GJB6 (Connexin 30) |
| GJB2 (Connexin 26) |
| DSG1 (Desmoglein 1) |
| DSP (Desmoplakin) |
| FZD6 |
| KRT1 |
| KRT9 (Epidermolytic or Vorner) |
| RHBDF2 (Tylosis) |
| TRPV3 (Olmsted Syndrome) |
| SLURP1 |
| PERP |
All patients in the photos below initially thought they might have PC. In reality, they have another type of PPK. Without genetic testing, it is often impossible to give patients an accurate diagnosis—which is why PC Project offers this service free of charge.
All patients in the photos above joined the registry, thinking they might have Pachyonychia Congenita. Now, they are all considered palmoplantar epidermal differentiation disorders including the PC genes.
Gene/protein: AAGAB/ Alpha and gamma adaptin binding (punctate PPK), DSG1/Desmoglein 1 (striate PPK I), KRT6A, KRT6B, KRT6C, KRT16, KRT17/Keratins 6a, 6b, 6c,16,17 (pachyonychia congenita), GJB6/Connexin 30 (clouston syndrome), KRT9/Keratin 9 (epidermolytic PPK), TRPV3/Transient receptor potential vanilloid-3 (olmsted syndrome), DSP/Desmoplakin (cardiomyopathy, dilated with woolly hair and keratoderma), RHBDF2/Rhomboid 5 Homolog (tylosis with esophageal cancer).
