PLEC and Menkes disease: In contrast to EBS-MD patients who carry mutations in regions of the plectin gene that are common to all isoforms, these patients had a skin-only phenotype, characterized by generalized blistering, excoriated verrucous papules, blisters healing with scarring and hyperpigmentation, and dystrophic hand and toe nails, while mucous membranes, heart, and muscle were spared [104].