A case of dominant dystrophic epidermolysis bullosa pruriginosa with a novel mutation in the hinge region of COL7A1.

This article discusses a case of dominant dystrophic epidermolysis bullosa pruriginosa (DDEB-Pr), a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by severe itching and prurigo-like lesions. The case involves a 28-year-old Japanese male with intractable prurigo-like lesions on his lower legs and dystrophic toenails. A skin biopsy confirmed the diagnosis of DDEB-Pr, and genetic analysis revealed a novel mutation in the COL7A1 gene. The article highlights the need for further research to understand the genotype-phenotype correlation and pathogenesis of DDEB-Pr. [Extracted from the article]