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 regarding dealing with these rare skin diseases, and we care about you!
Nearly 20% of cases clinically diagnosed as Pachyonychia Congenita are other disorders. Because these patients received their diagnosis through the Patient Registry, we consider them – you – to be part of our community! We know each of you and even discuss other PPK conditions at our monthly PC Genetics Team Meetings and our annual IPCC Research Symposiums.
The following video is a fantastic presentation about different conditions that cause PPK, given by Professor Edel O’Toole, a PC Project’s Steering Committee and Medical and Scientific Advisory Board member.
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, 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.
Other affected genes found in the International PC Research Registry
Soon, we plan to add content to the links below to provide information about the conditions or symptoms a mutation in that gene causes as a resource to the genetically confirmed individuals in our patient registry who do not have PC but another type of mutation that causes similar features.
|GJB6 (Connexin 30)
|DSG1 (Desmoglein 1)
|TRPV3 (Olmsted Syndrome)
All patients in the photos above joined the registry, thinking they might have Pachyonychia Congenita. Genetic testing is critical in receiving a correct diagnosis.
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).