ABSTRACT: A rare disease like pachyonychia congenita (PC) poses barriers to the patient, medical professional, and scientist. The patient has challenges connecting to information, the medical professional has challenges connecting to patient experience, and the scientist has challenges connecting to a sufficient number of patients to do meaningful research. Recent collaboration between these groups has transformed our understanding of PC and its symptoms and method of diagnosis. PC Project is at the center of this collaboration and is providing new insights for the dermatologist and dermatology nurse, enabling better diagnosis of PC and counseling of a PC patient. The PC patient, medical professional, and scientist have an international advocate in PC Project, a patient-led, nonprofit project committed to connecting all these communities to the tools they need to improve the lives of those living with PC.
Mary E. Schwartz, AA, Pachyonychia Congenita Project, Salt Lake City, Utah.
Gail M. Zimmerman, BA, Pachyonychia Congenita Project, Salt Lake City, Utah.
Frances Smith, PhD, Division of Molecular Medicine, University of Dundee, Dundee, United Kingdom.
Eli Sprecher, MD, PhD, Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, and Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Conflicts of interest and sources of funding: There are no conflicts of interest. PC Project is a 501(c)(3) U.S. public charity. Funding sources are from donations as well as grants from the National Institutes of Health.
Correspondence concerning this article should be addressed to Mary E. Schwartz, AA, Pachyonychia Congenita Project, 2386 E. Heritage Way, Suite B, Salt Lake City, UT 84109. E-mail: firstname.lastname@example.org