PXE Center of Excellence & Clinical Care

The PXE International Center of Excellence in Research and Clinical Care was established in 2016 in collaboration between Jefferson Dermatology and PXE International, a lay organization advocating on behalf of patients with pseudoxanthoma elasticum (PXE), a rare heritable disorder that can cause rash-like skin findings, cardiovascular complications and loss of visual acuity leading to blindness.

The Center was established with the goal of finding effective therapies for PXE and developing personalized medicine based on specific mutations of the disease. Jefferson is the ideal environment for the Center as we have the key players and core facilities necessary to make progress. Clinicians, researchers, biochemists, pathologists, and molecular geneticists will all work together to make advances in understanding this intractable disease. We are proud to be home to the first Center of its kind here in the United States.  The Jefferson Center works in close collaboration with the PXC Center in the fourth Military Medical University, Xi'an, China, which was established in 2013.

The Center was established by a $250,000 gift from PXE International, the disease’s foremost advocacy organization, and helped to recruit Koen van de Wetering, PhD, an authority on PXE’s basic pathology, to be its director.

Jouni Uitto MD, PhD, the Chair of the Department of Dermatology and Cutaneous Biology at Jefferson, and his colleagues were the first to identify mutations in this disorder and developed the first transgenic animal models. This research will be facilitated by access to over 7,000 PXE patients and a biobank of over 10,000 genetic samples through PXE International.