PLEC and epidermolysis bullosa simplex: Autosomal dominant EB with CAS is mainly caused by monoallelic variants of KRT5 and KLH24. EBS-severe with pyloric atresia (EBS-PA) is linked to mutations in PLEC, while JEB-PA is caused by mutations in ITGB4 and rarely ITGA6 (Pfendner and Uitto, 2005; Natsuga et al., 2010a; Natsuga, 2015; Mariath et al., 2020).