Monoallelic mutations in the translation initiation codon of the Kelch-like family member 24 (KLHL24) gene are causative of a recently discovered autosomal dominant syndromic EBS subtype, EBS intermediate with cardiomyopathy, hereafter indicated as EBS-KLHL24 (15,16). The gene discussed is KLHL24; the disease is epidermolysis bullosa simplex.