Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or recessively (RDEB) and covers a group of several distinctive phenotypes. A large number of unique COL7A1 mutations have been shown to underlie DEB. Although general genotype
Announcement of the national epidermolysis Bullosa registry
β Scribed by Carter, D. Martin ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 65 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
## Abstract As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: DowlingβMeara (EBS-DM), WeberβCockayne (EBS-WC)
The prevalence of epidermolysis bullosa (EB) in Britain and most other countries is unknown. Patients suffering from the inherited forms of EB and living in Scotland have been traced. Two hundred and fifty-nine affected people from 76 families have been identified, of whom 211 were clinically assess
## Background: A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (ebs-mp), was initially characterized in a swedish family in 1979, and seven further families have been reported. features of ebs-mp that are observed in most affected patients