A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen.

摘要

Dystrophic epidermolysis bullosa (DEB) is a rare genoderma-tosis characterized by trauma-induced mucocutaneous blisters and erosions that heal with scarring. DEB results from mutations in the COL7A1 gene, encoding type VII collagen, which is the major component of anchoring fibrils at the dermal-epidermal junction. Over 300 pathogenic mutations have been described within COL7A1 in DEB throughout the world. Several Japanese research groups also have performed genetic testing in this genodermatosis to establish genotype-phenotype correlation more precisely [1,2]. Pretibial DEB (DEB-Pt; OMIM 131850) is a rare form of localized DEB, characterized by recurrent blisters and hypertrophic scars occurring predominantly in the pretibial area, with variable nail dystrophy [3]. Recently, DEB-Pt was also shown to be caused by a glycine substitution within the triple-helical collagenous domain of type VII collagen [4]