Disorders of Connective Tissue
Various CT conditions have been identified; these can be both inherited and environmental.
- Marfan syndrome - a genetic disease causing abnormal fibrillin.
- Scurvy - caused by a dietary deficiency in vitamin C, leading to abnormal collagen.
- Ehlers-Danlos syndrome (EDS) - deficient type-III collagen; a genetic disease causing progressive deterioration of collagens, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, and arterial walls.
- Loeys-Dietz syndrome - a genetic disease related to Marfan syndrome, with an emphasis on vascular deterioration.
- Pseudoxanthoma elasticum - an autosomal recessive hereditary disease, caused by calcification and fragmentation of elastic fibers, affecting the skin, eyes and cardiovascular system.
- Systemic lupus erythematosus - a chronic, multisystem, inflammatory disorder of probable autoimmune etiology, occurring predominantly in young women.
- Osteogenesis imperfecta (brittle bone disease) - caused by insufficient production of good quality collagen to produce healthy, strong bones.
- Fibrodysplasia ossificans progressiva - disease of the CT, caused by a defective gene which turns CT into bone.
- Spontaneous pneumothorax - collapsed lung, believed to be related to subtle abnormalities in CT.
- Sarcoma - a neoplastic process originating within CT.
- Hemangiopericytoma - a neoplastic process
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