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Case report examines successful heart transplantation in a patient with hereditary epidermolysis bullosa, indicating no contraindication to the procedure.
Hereditary epidermolysis bullosa (EB) is a rare group of genetic diseases with structural and functional alterations affecting the epithelium leading to cell detachment with skin and mucosal epithelial damage. Certain EB subtypes are associated with an increased risk of cardiomyopathy. Patients with EB simplex (EBS) due to Kelch‐like 24 (KLHL24) mutation could develop dilated cardiomyopathy (DCM) requiring heart transplantation. However, despite optimal management avoiding skin blisters and mucosal damage, there is an increased risk of infections that lead to life‐threatening complications. This case report describes the clinical management of EB associated to DCM in a patient undergoing successful heart transplantation. EB is not a contraindication to heart transplantation and immunosuppression after transplantation may promote good systemic control of this disease.
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Fiore et al. (2026) studied this question.
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