ClinVar

In affected members of a large family with autosomal dominant epidermolysis bullosa dystrophica of the Cockayne-Touraine type (131750), Kon et al. (1997) identified a heterozygous 6100G-A transition in exon 73 of the COL7A1 gene, resulting in a gly2034-to-arg (G2034R) substitution. Hammami-Hauasli et al. (1998) and Mecklenbeck et al. (1999) also found the G2034R mutation in 2 additional families with DDEB, although specific phenotypic subtypes were not reported.

Martinez-Mir et al. (2002) identified heterozygosity for the G2034R substitution in affected members of a family with an unusual epidermolysis bullosa phenotype. The family was first reported by Fine et al. (1989) as epidermolysis bullosa simplex superficialis (607600) because skin biopsies showed clefts of variable size just below the stratum corneum or intraepidermal without changes in the sublamina densa. However, the clinical features also included those reminiscent of dominant dystrophic EB, including scarring, milia, nail dystrophy, and blistering involving the oral cavity. Based on the molecular findings, Martinez-Mir et al. (2002) reclassified the phenotype in this family as a clinical variant of dominant dystrophic epidermolysis bullosa.