Osteoporosis in a patient with recessive dystrophic epidermolysis bullosa
β Scribed by M. Kawaguchi; Y. Mitsuhashi; S. Kondo
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 138 KB
- Volume
- 141
- Category
- Article
- ISSN
- 0007-0963
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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
Absent or defective collagen VII at the dermo-epidermal junction is the hallmark of dystrophic recessive epidermolysis bullosa. Little is known of the alterations of other collagenous and non-collagenous components of the basement membrane; it is likely that their assembly may be disturbed by the la
Collagenase and stromelysin expression in recessive dystrophic epidermolysis bullosa (RDEB) was studied at both the protein and the gene expression levels in fibroblast cultures. The amount of enzyme protein in the culture medium, as determined using a specific enzyme assay, showed a 9.7-fold increa
Inherited epidermolysis bullosa (EB) manifests as blisters that usually result from minor trauma. The severity of expression ranges from mild occasional blistering to severe extensive bullae. We report an infant with dystrophic EB worsened by atopic dermatitis (AD). This concomitant skin disease exa
Loss-of-function mutations in the gene encoding type VII collagen, COL7A1, are the molecular basis of the blistering skin disorder, recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 maps to a region of the short arm of chromosome 3 that has been found to be deleted in many types of malignanc