Children’s Hospital Colorado’s epidermolysis bullosa program is recognized as a center of excellence by debra of America, the lead patient advocacy organization for epidermolysis bullosa (EB). The program, led by Anna Bruckner, MD, MSCS, and James Feinstein, MD, MPH, is one of only a handful of institutions providing advanced levels of care for EB, also known as butterfly skin disease. In fact, Dr. Bruckner says the program is gearing up to begin offering the first-ever treatment for dystrophic EB (DEB), a severe form of EB caused by abnormalities or deficiency of collagen VII in the skin. The treatment, which was recently approved by the U.S. Food and Drug Administration in a landmark decision, is a topical form of gene therapy that delivers normal copies of COL7A1 genes to the skin, helping form anchoring fibrils that strengthen the integrity of the epidermis and dermis. Advancements like this are reshaping the future of rare disease treatment and offer significant promise of transformative care and better quality of life for patients with this condition.
Featured researchers
Anna Bruckner, MD, MSCS
Section Head, Pediatric Dermatology
Director, Pediatric Dermatology Fellowship
Children’s Hospital Colorado
Professor of Dermatology and Pediatrics
University of Colorado School of Medicine
James Feinstein, MD, MPH/MSPH
Attending physician
Special Care Clinic and Child Health Clinic
Children's Hospital Colorado
Associate professor
Pediatrics-General Pediatrics
University of Colorado School of Medicine