Inherited Epidermolysis Bullosa: Clinical and Therapeutic Aspects

The document from April 1, 2013, provides an overview of inherited epidermolysis bullosa (EB), detailing its clinical features, diagnosis, and management. EB is a group of genetic disorders causing skin and mucosal fragility, leading to blistering and erosions. It is classified into simplex, junctional, dystrophic, and Kindler syndrome, with an incidence of 50 cases per 1,000,000 live births in the United States. Diagnosis involves clinical and histopathological findings, with electron microscopy as the gold standard. The paper discusses the physical, emotional, and economic impacts of EB, the importance of protective dressings like silicone foam, nutritional support, maintaining hemoglobin levels, and pain management. It also mentions new therapeutic strategies such as gene therapy, bone marrow stem cell transplantation, and recombinant protein infusion, while acknowledging the limitations of current treatments and the need for multidisciplinary care.