epidermolysis bullosa simplex 5A Ogna type

An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.

Signs and symptoms

• Skin fragility with non-scarring blistering
• Bruising susceptibility
• Onychogryphosis of toenails
• Hypoplastic dermoepidermal hemidesmosomes

Also known as: EBS-O; EBS-Og; EBSOG; epidermolysis bullosa simplex Ogna type