Welcome to the Cutis Laxa Research Study at the University of Pittsburgh. This study focuses on a group of disorders with the shared trait of cutis laxa, a disease of prematurely loose, redundant, inelastic and wrinkled skin. Changes (mutations) in several genes have been found to cause cutis laxa. Many of these genes provide instructions for substances that are essential for the formation of elastic fibers, which are important for the elastic properties (stretchiness or flexibility) of many body parts such as blood vessels, lungs, and skin. This study uses clinical and laboratory research to find disease-causing mutations in these known genes, and to identify new cutis laxa-causing genes. The research team is also studying the effects of the mutations and how they cause cutis laxa. This study is important for discovering ways of diagnosing cutis laxa by DNA testing as well as leading to new treatments for the disease.
If you have cutis laxa and you would like more