Pachyonychia Congenita Project (PC Project)
www.pachyonychia.orgPachyonychia Congenita (PC)
Prounounced “Pack-e-o-nik-e-uh Kun-jen-i-ta”
About Pachyonychia Congenita (PC):
PC is a chronically disabling, ultra-rare autosomal dominant skin disorder caused by a mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The most common physical symptoms are painful calluses and blisters on the soles of the feet which make walking difficult or impossible. Many patients crawl and rely on walking aids such as crutches or wheelchairs. Other common features of PC include palmar keratoderma, nail dystrophy, oral leukokeratosis, follicular hyperkeratosis and for some patients, cysts, which can also be extremely painful. Currently, there is no cure or effective treatment for PC. Patients manage their own symptoms with frequent trimming and filing of the thickened calluses and nails.
About PC Project:
A 501(c)(3) nonprofit, PC Project is the only organization in the world dedicated to serving PC patients and facilitating PC research. PC Project’s programs and services include:
- The International Pachyonychia Congenita Research Registry (IPCRR). This IRB approved registry (WIRB Study #20040468) has enrolled over 2000 patients in over 60 countries. Free genetic testing is provided to those in the IPCRR. Joining the IPCRR is the most important thing a patient can do to advance research and be connected to the global PC community. Registry data has literally changed what is known about PC. To learn more, please visit org/patient-registry/
- The International Pachyonychia Congenita Consortium (IPCC). This group includes scientists, physicians and industry partners from around the world who encourage and support collaborative research and drug development related to keratin disorders and finding treatments for PC. An annual IPCC Symposium is held prior to the Society of Investigative Dermatology Annual Conference. Research grants are available with an open application schedule. For more information, visit org/pc-consortium/
- Annual PC Patient Support Meetings. Held in the US and European locations, patients, family and the medical and scientific community gather to teach and support one another on how to care for and live with this painful, isolating disease. These meetings are edifying and often life-changing for patients. To learn more, visit org/news-events/
- Educational Outreach. The ever-growing PC community is reached through social media, quarterly newsletters for IPCC members, monthly news briefs for the general PC community, including patients, and the PC website at org which provides current PC information and includes a full-text bibliography of 700+ articles related to PC and keratin research.
“I want to be involved because I hope PC Project will find a cure and ways to relieve the pain of those suffering from PC. It is not so much for my own sake as it is for my daughter who is suffering daily. My daughter and I are full of hope and joy because we found PC Project. We don’t know anyone else who has this disease. We have had numerous doctors shake their heads and say they never saw anything like it. Getting a diagnosis and being part of this group helps us, even without a cure.” – A PC patient who joined the registry
