Connective Tissue - Disorders of Connective Tissue

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