Journal article
Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen
JAAD Case Reports, Vol.5(9), pp.779-781
09/01/2019
DOI: 10.1016/j.jdcr.2019.06.032
PMID: 31516996
Abstract
Introduction
Epidermolysis bullosa (EB) is a group of genetic disorders characterized by blisters and erosions/ulcerations in response to otherwise benign mechanical forces applied to the skin. Pretibial epidermolysis bullosa (PEB) is a form of EB that most often presents with blistering, ulceration, scarring, and milia localized to the bilateral legs. We report a case of man in his 50s presenting with blistering and scarring of his bilateral legs caused by PEB found to be associated with a mutation in COL7A1 that results in exon skipping.
Details
- Title: Subtitle
- Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen
- Creators
- Patricia Richey - University of IowaMelia Holt - University of IowaSydney Crotts - University of Iowa, DermatologyAli Jabbari - University of Iowa, Dermatology
- Resource Type
- Journal article
- Publication Details
- JAAD Case Reports, Vol.5(9), pp.779-781
- DOI
- 10.1016/j.jdcr.2019.06.032
- PMID
- 31516996
- NLM abbreviation
- JAAD Case Rep
- ISSN
- 2352-5126
- eISSN
- 2352-5126
- Publisher
- Elsevier Inc
- Copyright
- © 2019 American Academy of Dermatology
- Language
- English
- Date published
- 09/01/2019
- Academic Unit
- Dermatology
- Record Identifier
- 9983764598502771
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