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

1 Oct 2019

Abstract excerpt

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,...

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PMID: 31649980
DOI: 10.1016/j.jdcr.2019.08.009

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