Elastin in diseases.
Previous morphologic observations have suggested abnormalities in the elastic fibers in a number of both inherited and acquired diseases. Recent progress made in understanding of the normal biology of elastin has allowed us to examine these diseases by biochemical means. In this review we are discussing the current status of the research on the elastin diseases with particular emphasis on clinical conditions affecting skin, as for example, cutis laxa, pseudoxanthoma elasticum, and the Buschke-Ollendorff syndrome. In addition, we present new data which appears to be the first demonstration of an elastin abnormality in the Marfan syndrome.
D003240:Connective Tissue Diseases / Q000378:metabolism; D003483:Cutis Laxa / Q000378:metabolism; D004549:Elastin / Q000378:metabolism*; D006801:Humans; D008382:Marfan Syndrome / Q000378:metabolism; D007706:Menkes Kinky Hair Syndrome / Q000378:metabolism; D011561:Pseudoxanthoma Elasticum / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000473:pathology; D012871:Skin Diseases / Q000378:metabolism* / Q000473:pathology
D004549:Elastin