Hypermability of joint and hyperelasticity is seen in –
Correct Answer: Ehlers danlos syndrome
Description: Ans. is `b' i.e., Ehlers Danlos syndromeEhlers Danlos syndrome (EDS)o EDS comprises a clinically and genetically heterogenous group of disorders that result from some defect in the synthesis or structure of collegen and characterized by hyperelasticity of skin and hypermobile joints.Several types of EDS have been described based on the extent to which the skin, joints and other tissues are involved, mode of inheritence and biochemical analysis. Type I - severe- II Type mild Classic EDS --> Involvement of both joints & skin. Type III - Hypermobile EDS --> Joints > skin Type IV - Vascular EDS --> Vascular and intestinal intAolvement. Type V --> Similar to classic Type VI - Occular scliotic EDS --> Eye and spine involvement. Type VII - Dermatosparactic EDS --> Dysmorphic features Type VIII --> Perodontal EDS --> Dental involvement.o EDS shows all patterns of mendelian inheritance ?Type I, II, III, IV, VII A & B, VIII Autosomal dominant.Type IV & VII C ----> Autosomal recessiveType V X-linked recessive.o Clinical manifestations 1. SkinSkin is hyperextensible --* Rubber man syndrome.o Patient can develop cigarette - paper scar.o There is easly bruisability.Jointso There is ligament laxity and hypermobility of joint ---> Patient can bend thumb back to touch farearm. o Dislocation of hip or other joints may occur.OthersMitral valve prolapse pn classic (type I) EDSDiaphragmatic herniao Rupture of colon and large aeries -k In vascular (type IV) EDS.o Rupture of cornea and retinal detachmento Kyphoscoliosis In ocular-scoliotic (type VI) EDS.o Blue sclerao Absorptive periodontosis with premature loss of teeth -4 In periodontic (type VIII) EDS.
Category:
Pathology
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