epidermolysis bullosa with congenital localized absence of skin and deformity of nails

An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mut

An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.

Signs and symptoms

• Sub-lamina densa cleavage
• Fragile skin
• Congenital localized absence of skin
• Abnormal blistering of the skin
• Nail dystrophy
• Oral mucosal blisters

Also known as: EBD, Bart type; epidermolysis bullosa dystrophica, Bart type