International Registry for Pachyonychia Congenita to Collect Patient Data and Genetic Testing

What this Trial Is About

Researchers are collecting information from people with Pachyonychia Congenita PC, a very rare and painful skin disorder that causes blisters, calluses on feet and hands, thickened nails, cysts, and other symptoms. This observational research registry aims to better understand the different traits and patterns of PC by gathering detailed patient information, photos, and optional medical notes. The Pachyonychia Congenita Project sponsors this international effort to help improve knowledge about this condition. Participants start by completing an online consent form and questionnaire that collects important details about their symptoms and helps distinguish PC from other conditions. They then provide photos of affected areas, which can be uploaded online or sent by email. After submission, participants have an intake call to review their information and discuss next steps. Some participants may be offered free genetic testing using a saliva sample collected at home and mailed in for analysis. This testing can take several months and helps provide a detailed genetic report to guide medical care and other support. During the study, participants contribute information once a year to help describe PC patterns and traits. All data and genetic testing results are kept confidential and reported anonymously. Participants may request additional consultations as needed. There is no cost for testing or assistance, and involvement can continue over several years. The registry helps researchers gather valuable information to better understand and support people living with this rare skin disorder.

International Pachyonychia Congenita Research Registry