Epidermolysis Bullosa (EB), a genetic disorder of the skin that presents with eruptive lesions accompanied by blistering has multiple types. We present a case of dystrophic and epidermolysis bullosa (DEB), a rare variant of the disease with the underlying pathophysiology involving a mutation of type VII collagen that serves as an anchoring protein for basement membrane to the dermis. The patient presented with palmoplantar hyperkeratosis with blistering extending on multiple sites of the body, bilateral pleural effusion and an ejection fraction of 23% with moderate mitral regurgitation. The patient was treated symptomatically with diuretics and inotropic medication for the dilated heart, along with draining of pleural spaces. No case of DEB with pleural effusion has been reported prior to this one. We believe this is the first case that presented with both pleural effusion and dilated cardiomyopathy.
Keywords: Epidermolysis Bullosa Dystrophica, Pleural Effusion, Dilated Cardiomyopathy..