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A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs. These tissues form a framework, or matrix, for the body, and are composed of two major structural protein molecules: collagen and elastin. There are many different types of collagen protein in each of the body's tissues. Elastin has the capability of stretching and returning to its original length—like a spring or rubber band. Elastin is the major component of ligaments (tissues that attach bone to bone) and skin. In patients with connective tissue disease, it is common for collagen and elastin to become injured by inflammation. Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body tissues (autoimmunity).〔William C. Shiel Jr.,(Connective Tissue Disease )〕 Diseases in which inflammation or weakness of collagen tends to occur are also referred to as collagen diseases. Collagen vascular diseases can be (but are not necessarily) associated with collagen and blood vessel abnormalities and that are autoimmune in nature.〔 See also vasculitis. Connective tissue diseases can have strong or weak inheritance risks, and can also be caused by environmental factors. ==Heritable connective tissue disorders== * Marfan syndrome – a genetic disease causing abnormal fibrillin. * Peyronie's disease- involving the growth of abnormal collagen (Type I and III) in the penis. * Ehlers-Danlos syndrome – defect in the synthesis of collagen (Type I or III) causes progressive deterioration of collagens, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, arterial walls * Osteogenesis imperfecta (brittle bone disease) – caused by insufficient production of normal collagen (primarily type I) to produce healthy, strong bones. * Stickler syndrome – affects collagen (primarily type II and XI), and may result in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. *Alport syndrome - defects in collagen (type IV), found in the renal basement membrane, inner ear and eyes, leading to glomerulonephritis, hearing loss, and eye disease, respectively. * Congenital contractural arachnodactyly - Also known as Beal's syndrome. It is akin to Marfan syndrome but with Contractures of hip, knee, elbows and ankle joint and crumpled ear. * Loeys–Dietz syndrome- The disorder is marked by aneurysms in the aorta, often in children. Symptoms appear to be like Marfan Syndrome and EDS. This is caused by a mutation in the gene TGFBR on either chromosome 3 or 9 depending on the type. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Connective tissue disease」の詳細全文を読む スポンサード リンク
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