Epidermolysis bullosa: new and emerging trends

Epidermolysis bullosa is a family of inherited blistering skin disorders characterized by blister formation in response to mechanical trauma. Major types of epidermolysis bullosa include epidermolysis bullosa simplex, hemidesmosomal epidermolysis bullosa, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa. Current treatment for epidermolysis bullosa consists of supportive care for skin and other organ systems and entails a combination of wound management, infection support for chronic wounds, surgical management as needed, nutritional support, and preventative screening for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. The regimen must be tailored specifically to the severity and extent of skin and systemic involvement in each case. Recent studies have identified specific protein and genetic abnormalities for most epidermolysis bullosa subtypes. These new advancements in the understanding of molecular pathophysiology have provided much of the basis for current efforts to develop effective gene and protein therapy for epidermolysis bullosa.