Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails

**Semantic type:** Disease or Syndrome

**Definition:** A clinical variant of autosomal dominant epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain. A heterozygous 6007G-to-A transition in exon 73 results in a glycine-to-arginine substitution at position 2003 (G2003R) within the triple helical domain. This variant is characterized by the congenital absence of skin on the lower extremities, blistering of skin and mucous membranes, and the congenital absence or deformity of nails.

**Synonyms:** - Autosomal Dominant Epidermolysis Bullosa Dystrophica, Bart Type - Bart Syndrome - Dominant dystrophic epidermolysis bullosa with absence of skin - Epidermolysis Bullosa Dystrophica, Bart Type