We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
- Authors
Makoto Nagai; Hiroshi Nagai; Chiharu Tominaga; Yoshiko Sakaguchi; Orie Jitsukawa; Noriko Ohgo; Chikako Nishigori; Kiyofumi Yamanishi
- Abstract
The article describes the case of a 10-month-old infant with localised dominant dystrophic epidermolysis bullosa (DDEB) on her hands and feet. Topics discussed include the result of her hematoxylin and eosin (H&E) staining of a biopsy specimen from a dorsal lesion of her right foot which showed subepidermal blisters and some inflammatory infiltrates in the upper dermis and the importance of comprehensive multiplex analysis of genes by next generation sequencing (NGS) in diagnosing EB.
- Subjects
SKIN inflammation; GENETIC regulation
- Publication
Acta Dermato-Venereologica, 2015, Vol 95, Issue 5, p629
- ISSN
0001-5555
- Publication type
Case Study
- DOI
10.2340/00015555-2019