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  • Title: [Progressive pseudorheumatoid chondrodysplasia. Case report].
    Author: Pedini N, Putz P.
    Journal: Rev Med Brux; 2010; 31(6):533-7. PubMed ID: 21290858.
    Abstract:
    We present the case of a 17-year-old patient suffering from progressive pseudorheumatoid chondrodysplasia from whom 2 total hip prostheses and 2 total knee prostheses were necessary. We have to do with a recessive autosomal genetic disorder characterized by a lysis of the articular cartilage. This leads to an early degeneration of the joints. The clinic is mainly characterized by various complaints such as joint pain, stiffness, limitation or swelling causing a significant motor disability from childhood. The first joints affected are situated in the hands, later followed by the hips, elbows and knees. The X-rays show severe, multifocal articular degenerative modifications which are unusual for the age. The genetic mutation concerns the WISP 3 gene actively expressed by articular chondrocytes and located on chromosome 6. The differential diagnosis is done with a series of rheumatologic disorders in children and autoimmune diseases. We mainly retain the juvenile rheumatoid arthritis. A symptomatic medical treatment can be undertaken first. However, given the evolving nature of the pathology, a joint replacement surgery is needed once the child's growth is finished (second decade of life).
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