Discussion

Epidermolysis bullosa encompasses a spectrum of inherited defects in epidermal and dermoepidermal junction ultrastructure. As many as 9 different genes have been associated with EBS. 3 Recently, described mutations in KLHL24 have been implicated in a novel subtype of EBS. Although the exact mechanism by which KLHL24 results in skin fragility is unclear, the protein is involved in a ubiquitination and protein degradation pathway. 4 As in our patient, the pathogenic mutations appear to consistently involve the initiation codon of the KLHL24 gene. 5 The same mutation in our patient, c. 1A> T, has been reported in one other affected family. 2 In addition to blistering at birth, stellate scarring, and dyspigmentation in childhood, multiple cases of DCM have been described among these patients. Yenamandra et al 6 reported a father and son with EBS-KLHL24. The father also had a history of DCM diagnosed at age 18 requiring OHT. 6 The son had a borderline enlarged left ventricle on TTE, but it was clinically asymptomatic. Schwieger-Briel et al 7 reported the extracutaneous features of 20 patients with EBS-KLHL24. Eight of the 20 patients had DCM including 2 patients who died of cardiac death at ages 39 and 54 before the start of the study. 7 Based on our patient and other reported cases, DCM is a serious extracutaneous manifestation of EBS-KLHL24. Given the potential for early age of onset and rapid progression, as seen in our case, routine cardiac screening (such as TTE and brain natriuretic peptide level) should be performed. Furthermore, cardiac transplantation appears to be a viable treatment option in severe cases of EBS-KLHL24–associated cardiomyopathy.