Pachyonychia Congenita

Research Progress Related to Pachyonychia Congenita

Researchers are working to increase our understanding of PC and develop therapies for the disorder.

• Much of the research focuses on targeting the underlying source of PC by “shutting down” the mutated keratin gene. Insights into the genetic causes of PC will provide new information about how the skin maintains and renews itself and may serve as the basis for creating new therapeutic approaches.
• The cause of pain in PC is poorly understood, but some evidence suggests that neuropathic pain, which stems from damaged or injured nerves, is at least partly to blame. Studies are testing the effectiveness of drugs that treat this type of pain.
• Researchers are working to map the features, severity, and course of each type of PC. With a clearer picture of the characteristics of each type, researchers will more easily be able to design clinical trials to accurately measure the efficacy of experimental therapies.