We hypothesize that there are clinical, radiologic, and genetic markers that will risk-stratify
patients and reliably predict rate of disease progression. Our aim is to collect clinical, patient reported and radiologic, genetic and laboratory data over time to determine the trajectory of
disease severity and natural history of disease. Our long-term goal is to ready the field for clinical trials by identifying subgroups of patients for intervention and creating a set of quantitative outcome measures that can be reliably used to demonstrate clinically meaningful endpoints in controlled trials. We will capitalize on our recent gene discovery and partner with patient advocacy groups to ensure outcomes are patient-centered and cohorts are representative. We will also contribute to the advancement of medical genetics, vascular anomalies, dermatology, and ultimately develop outcome measures that may be used to develop oral and topical novel small molecules for targeted treatment for our patients.