In contrast to autosomal recessive mutations in plectin, which account for the multisystem disorders epidermolysis bullosa simplex (EBS) associated with muscular dystrophy (EBS-MD), pyloric atresia (EBS-PA) and congenital myasthenia (EBS-CMS), the rare EBS-Ogna mutation manifests exclusively in skin, where it leads to blister formation in basal cells immediately above HDs (Koss-Harnes et al. 2002). The gene discussed is PLEC; the disease is congenital myasthenic syndrome.