Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement

We report a new clinical variant of epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) that was associated with cardiac involvement. A 33-year-old patient had atrial fibrillation, pericardial effusion, and hypokinetic left ventricular cardiac walls. The muscle biopsy material revealed diffuse endomysial fibrosis and small atrophic muscle fibers with rounded contours. A positive desmin expression with abnormal localization in the subsarcolemmal groups was observed. We concluded that patients with EBS-MD should be investigated carefully when there are associated cardiac findings.