PLEC and muscular dystrophy: Pathogenic variants in the PLECgene, which encodes the plectin protein, can result in different subtypes with different inheritance patterns, which together account for up to 8% of cases of EBS.1, 13 The autosomal dominant form results in intermediate EBS, while the recessive form can result in intermediate EBS, intermediate EBSwith muscular dystrophy, and severe EBSwith pyloric atresia.2