Ehlers-Danlos Syndrome
Authors:
- Tetsuo SasakiTSTetsuo Sasaki
- Katsuhiko AraiKAKatsuhiko Arai
- Minoru OnoMOMinoru Ono
- Tetsu YamaguchiTYTetsu Yamaguchi
- Shoichi FurutaSFShoichi Furuta
- Yutaka NagaiYNYutaka Nagai
- 1 January 1987
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Dermatology
- Vol. 123 (1) , 76-79
Abstract
• The clinical findings and biochemical studies are described for a 30-year-old man with Ehlers-Danlos syndrome. Type analysis of collagen produced by cultured fibroblasts revealed the lack of a detectable proα2 chain of type I procollagen. The intracellular degradation rate of newly synthesized collagen was higher than that of normal cells, resulting in the reduction of net collagen production. Clinical manifestations characterized by cardiovascular abnormalities due to decreased collagen deposition in the aortic valve and the wall of aorta, hypermobility of the joints, and hyperextensibility of the skin in this patient may be closely related to the observations described above. (Arch Dermatol1987;123:76-79)Keywords
This publication has 7 references indexed in Scilit:
- Heritable Diseases of CollagenNew England Journal of Medicine, 1984
- Biosynthesis of interstitial types of collagen by albumin-producing rat liver parenchymal cell (hepatocyte) clones in cultureBiochemistry, 1980
- BIOCHEMICAL HETEROGENEITY OF OSTEOGENESIS IMPERFECTA: NEW VARIANTThe Lancet, 1979
- Collagen polymorphism: Isolation and partial characterization of α1(I)-trimer molecules in normal human skinArchives of Biochemistry and Biophysics, 1979
- Fibroblasts degrade newly synthesised collagen within the cell before secretionNature, 1978
- Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by FluorographyEuropean Journal of Biochemistry, 1975
- Use of a mixture of proteinase-free collagenases for the specific assay of radioactive collagen in the presence of other proteinsBiochemistry, 1971