Mf. Jonkman et al., Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1), J INVES DER, 112(5), 1999, pp. 815-817
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.