Abstract
EHLERS–DANLOS syndrome (cutis hyperelastica, india-rubber skin), a rare heritable generalized disorder of the connective tissues, is characterized by hyperextensibility of the skin, hyperlaxity of the joints, fragility of the skin, and, not infrequently, by one or a combination of such internal manifestations as cardiac anomalies, dissecting aneurysm of the aorta and diaphragmatic hernia1. Previous investigations directed towards identifying the fundamental defect in the connective tissues, using the methods of light and electron microscopy, have led to contradictory results. Many investigators have described an increase in the amount of elastin in the corium while others have observed a normal or even a decreased amount of elastin1. Similar controversy exists over the possibility that the collagen is either quantitatively or qualitatively abnormal in this disease1,2. The purpose of the work reported here was to isolate elastin quantitatively from the skin of patients with this disease and from the skin of normal, control subjects, and to examine chemically the purified elastin isolated from these two sources.
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VARADI, D., HALL, D. Cutaneous Elastin in Ehlers–Danlos Syndrome. Nature 208, 1224–1225 (1965). https://doi.org/10.1038/2081224b0
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DOI: https://doi.org/10.1038/2081224b0
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