Objective: Review the pathogenesis of recessive dystrophic epidermolysis bullosa and provide an update on research currently underway that is aimed at treating and potentially curing this severe skin disorder.
Design: Review article.
Setting: Private practice and large teaching hospital.
Participants: None.
Measurements: N/A.
Results: Currently, patients with recessive dystrophic epidermolysis bullosa are managed with only supportive care. However, there are several promising new treatment avenues that may help patients in the future. These include gene therapy, cell therapy, and protein-based therapy. Each approach offers distinct advantages and disadvantages.
Conclusions: The advances in understanding the molecular basis for epidermolysis bullosa over the last few decades has led to significant progress in devising new treatment options. Though many of these approaches remain several years away from regular implementation, it is an exciting time for research in the field.