3 years ago

Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa

Julia Hoffmann, Judith Fischer, Franziska Schauer, Cristina Has
Dystrophic epidermolysis bullosa (EB) is a heterogeneous group of inherited blistering diseases with skin cleavage beneath the basement membrane caused by mutations in COL7A1, encoding collagen VII (1). Clinical features include skin and mucosal blistering and scarring, and cover a broad range of degrees of severity. Clinical manifestations of severe generalized dystrophic EB due to loss-of-function mutations are typical, allowing a clinical diagnosis. This article is protected by copyright. All rights reserved.

Publisher URL: http://onlinelibrary.wiley.com/resolve/doi

DOI: 10.1111/jdv.14663

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