[Hereditary elastolysis].
Several inherited syndromes characterized by abnormal elastic fibers decreased in number and size could be collected under the heading of inherited elastolysis. This morphological concept does not prejudge the causal mechanisms of the elastolysis involving dermis and/or other organs. The elastic fibers anomalies result mainly from elastin crosslinking defects, developmental disturbances or excessive proteolysis.
D004535:Ehlers-Danlos Syndrome / Q000235:genetics; D004549:Elastin / Q000378:metabolism*; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics; D012867:Skin / Q000378:metabolism*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D019896:alpha 1-Antitrypsin Deficiency
D004549:Elastin
Les élastolyses héréditaires.