Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation–associated cardiomyopathy

Abstract

Epidermolysis bullosa simplex (EBS) is a rare inherited blistering disease characterized by mutations in several genes encoding for structural proteins within the epidermis. Mutations in kelch-like protein 24 (KLHL24) were recently implicated in a unique subtype of EBS.1 Features of EBS-KLHL24 include blistering at birth, stellate scarring, hypo- and hyperpigmentation in childhood, nail dystrophy, alopecia, anetoderma, and skin fragility. There is a growing association of dilated cardiomyopathy in EBS-KLHL24 that may be severe and present in early adulthood.2 Here we report a case to support the current evidence of dilated cardiomyopathy (DCM) associated with EBS-KLHL24. In addition, we report a successful orthotopic heart transplant (OHT) as treatment for severe manifestation of KLHL24 mutation–related cardiomyopathy.