Dilated cardiomyopathy associated with dystrophic epidermolysis bullosa: role of micronutrient deficiency?

Autosomal recessive dystrophic epidermolysis bullosa (DEB) is a chronic skin disorder characterized by widespread bullous formation, erosions, and scar formation. There have been reports of dilated cardiomyopathy and death in patients with DEB. The pathogenesis of cardiomyopathy in DEB remains uncertain, but some drugs, viral infections, iron loading, micronutrient deficiencies such as selenium and carnitine have been implicated. A 16-year-old boy who was followed-up from birth with the diagnosis of DEB presented with respiratory distress and heart failure symptoms of two-week history and early fatigue within the past year. Etiological evaluation showed a low plasma selenium level. Echocardiographic examination yielded the diagnosis of dilated cardiomyopathy. Findings of viral serology tests and metabolic screening were normal. Selenium replacement and anticongestive treatment were initiated, which led to partial improvement in cardiac functions. The authors draw attention to the possible role of micronutrient deficiency in the development of cardiomyopathy in patients with DEB.