The purpose of this study is to develop a better understanding of the cause of vascular overgrowth syndromes. Through this study, we hope to see if there is a relationship between vascular birthmarks and the genetic mutation. We are collecting DNA and RNA from skin biopsies, tissue specimens, blood samples, and/or buccal swabs. Individuals (any age, including adults) with vascular overgrowth syndromes, defined as a vascular anomaly associated with discrepancies in tissue growth, can participate. After enrollment, participants will be asked to provide DNA to test for genetic mutations, along with medical and family information.
What we learn from this study will help us to give people with vascular overgrowth syndromesand their relatives more detailed and accurate medical information and hopefully will lead to better, targeted treatments. You will not be paid for participating in this study.
Principal Investigators: Beth Drolet, MD, Dawn Siegel, MD and Megha Tollefeson, MD