Epidermolysis Bullosa Simplex

Abstract

In this presentation, I explore the pathogenesis and current research of Epidermolysis Bullosa Simplex (EBS) through background literature, images, and studies. Epidermolysis Bullosa Simplex is a complex, inherited disease with a wide range of clinical symptoms and outcomes. Quality of life with EBS can range from relatively normal to debilitating and life-threatening. There is no known cure, however, the disease is managed with a range of treatments. In this presentation, we report on the mechanisms behind the disease, its manifestation, and the research being done to better understand EBS. 

In our research, we examined the physiological causes behind EBS, which involve mutations in the genes that encode for the Keratin 5 and Keratin 14 filaments. We explored the common clinical presentations, the range of severity of the symptoms and quality of life, and the currently available treatments. We also investigated research avenues currently being explored in the search for a cure for the disease.