Principal Investigator: Keith Choate, MD, PhD Yale University Overview: This study is using novel techniques to examine genetic mutations related to mosaic skin disorders. Discoveries made are likely to impact the development of targeted therapies in future. This study is funded by an … [Read more...] about Gene Discovery and Genetic Diagnosis in Inherited and Mosaic Skin Disorders
Active Studies
Esophageal Strictures in Epidermolysis Bullosa Patients: Incidence, Management Strategies and Patient Outcomes
Principal Investigator: Elena Pope, MD University of Toronto Overview: Esophageal strictures are well recognized complications of patients with Epidermolysis Bullosa (EB). To date, there is very little information on the best short and long-term intervention to manage the strictures with … [Read more...] about Esophageal Strictures in Epidermolysis Bullosa Patients: Incidence, Management Strategies and Patient Outcomes
Assessment of current practices in management of infantile hemangioma
Principal Investigator: Jennifer Huang, MD Harvard Medical School Overview: This is a survey study targeted towards pediatric dermatologists with the aim of investigating current management of infantile hemangiomas, using case based scenarios, and specific questions regarding use of … [Read more...] about Assessment of current practices in management of infantile hemangioma
The Burden of Pediatric Skin Disease — the “Big Study”
What is the study about? We hope to better understand the burden of skin disorders in school-age children, and how these skin disorders affect a child’s personal and social perceptions. We want to study the relationship between the burden and how severe or visible the skin … [Read more...] about The Burden of Pediatric Skin Disease — the “Big Study”
Retrospective and Prospective Evaluation of Pediatric Cutaneous Mastocytosis
Principal Investigator: Leslie Lawley, MD Emory University Overview: This study aims to better characterize pediatric cutaneous mastocytosis through a retrospective and prospective clinical evaluation of patients over 20 years. Specifically we are evaluating the natural history of … [Read more...] about Retrospective and Prospective Evaluation of Pediatric Cutaneous Mastocytosis
