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- Title
A case of dominant dystrophic epidermolysis bullosa pruriginosa with a novel mutation in the hinge region of COL7A1.
- Authors
Azusa Ida; Osamu Ishikawa; Akihiko Uchiyama; Eijiro Akasaka
- Abstract
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.
- Subjects
EPIDERMOLYSIS bullosa; GENETIC mutation; HINGES; GENETIC databases; COLLEGE graduates; TISSUE remodeling
- Publication
Journal of Cutaneous Immunology & Allergy, 2024, p1
- ISSN
2574-4593
- Publication type
Article
- DOI
10.3389/jcia.2024.12844