Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystroph ic epidermolysis bullosa is studied. The albopapuloid lesions developed wit hin the first year of life, contained milia and were associated with prurit us. Mutation detection of the COL7A1 gene revealed a G-->A transition at nu cleotide position 6110 in the mutant allele converting a glycine to glutami c acid (G2037E). This report adds to the expanding database on COL7A1 mutat ions in dystrophic epidermolysis bullosa.