DEFINITION Connective tissue is a type of fibrous tissue composed of insoluble matrix in which complex molecules (collagen) are assembled. Major constituents- Collagen, Elastin Collagen is defective in most of the connective tissue disorders
Structure of Collagen Collagen has a triple helix structure Three polypeptide chains(alpha1,2,3) Each chain has 1000 amino acids. Every third amino acid must be Glycine. There are 28 types of collagens which differ in amino acid sequence.
Other features Cigarette paper scar. Easy bruisability. Dislocations of hip Mitral valve prolapse. Hernias.
Treatment Surgical repair & tightening of joint ligaments. Easy bruisability should be differentiated from bleeding disorders. Counseling to women about uterine rupture and bleeding during pregnancy.
Elastin related diseases Epidermolysis bullosa- Characterized by blister formation following minor trauma. Types- EB simplex EB hemidesmosal EB junctional EB dystrophica Treatment is symptomatic
Alport syndrome Alport syndrome Characterized by hematuria, sensorineural deafness, lenticonus. X-linked disorder. Incidence is 1 in 10000. Hematuria gradually leads to nephritis which ultimately cause renal failure. Treatment- Renal transplantation