The differential symptomatology of errors of collagen metabolism: a tentative classification.
We address the confusion in the current classification of inherited disorders of collagen and the excessive extension of the concept of the Ehlers-Danlos "syndrome" that tends to cover many facts and conditions frequently without strong clinical connection. We propose to subdivide the collagen disorders into four main classes depending on whether skin, joints, bone, or blood vessels are mainly involved. The class with mainly skin involvement includes the different forms of cutis laxa, Ehlers-Danlos syndrome types I and II (autosomal dominant), types V and IX (X-linked recessive), type VI (autosomal recessive), and type VIII (autosomal dominant). The group with mainly articular involvement includes Larsen and related syndromes and other types with a more benign course. The conditions with mainly skeletal involvement include the different forms of osteogenesis imperfecta. The class with mainly blood vessel involvement includes disorders of type III collagen and the Marfan syndrome. This tentative classification proposes a logical clinical framework that will allow easier integration of molecular biology data.
D001847:Bone Diseases / Q000145:classification / Q000235:genetics; D003094:Collagen / Q000235:genetics / Q000378:metabolism*; D003095:Collagen Diseases / Q000145:classification* / Q000235:genetics / Q000378:metabolism; D003483:Cutis Laxa / Q000145:classification / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics; D006801:Humans; D007592:Joint Diseases / Q000145:classification / Q000235:genetics; D008022:Ligaments / Q000503:physiopathology; D012871:Skin Diseases / Q000145:classification / Q000235:genetics
D003094:Collagen