Epidermolysis Bullosa

Epidermolysis bullosa (EB) comprises a group of genetic blistering disorders caused by mutations affecting structural proteins anchoring the epidermis to the dermis at the dermal-epidermal junction. The condition presents with fragile, blistering skin that tears easily with minor trauma. Three major groups are recognized: EB simplex (usually mild, intraepidermal blistering), junctional EB (intermediate to severe, blistering at the basement membrane zone), and dystrophic EB (severe, subepidermal blistering with scarring). Patients with severe forms experience chronic, painful blistering; extensive scarring leading to contractures and loss of mobility; nail loss; and involvement of mucous membranes (oral, esophageal, GI tract), causing swallowing difficulties and nutritional compromise. Severe dystrophic EB patients have markedly reduced lifespan (median approximately 25-30 years) due to complications including infections, sepsis, malnutrition, and aggressive squamous cell carcinoma developing in scarred areas.