Dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa is a rare inherited genodermatosis characterized by extreme mechanical fragility of the skin and mucous membranes, with clinical onset typically occurring at birth or during early infancy Pathophysiologically, the disorder is caused by mutations in the *COL7A1* gene, which leads to a deficiency or defect in type VII collagen, the primary component of anchoring fibrils that secure the epidermal basement membrane to the underlying dermis Blistering develops in the ...

Blistering develops in the sub-lamina densa plane in response to minor friction or trauma, resulting in chronic non-healing erosions, extensive scarring, nail dystrophy, pseudosyndactyly (mitten deformities), and esophageal strictures Severe forms, particularly recessive subtypes, are further complicated by chronic systemic inflammation, growth impairment, and a markedly elevated lifetime risk of aggressive cutaneous squamous cell carcinoma