Rabbit Anti-Human WISP3 Polyclonal Antibody

Progressive pseudorheumatoid dysplasia is an autosomal recessively inherited skeletal disease. Progressive pseudorheumatoid dysplasia can involve multiple synovial joints, which then develop structural deformity and articular dysfunction. We report a case of progressive pseudorheumatoid dysplasia with polyarthropathy in a 17-year-old girl. Total hip arthroplasty was performed to treat persistent pain and stiffness by reconstructing a functional joint. Although we found arthroplasty to be an effective way of reconstructing a functional joint, treatment of the underlying cause is urgently required for this disease in the future.

BackgroundProgressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia caused by mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. Available literatures in PPD emphasized treatment strategy for polyarthritis, while few mentioned spinal deformity and related surgical intervention.MethodsHere, we present a Chinese man with PPD who underwent spinal surgery twice because of canal stenosis and related symptoms caused by the disease. Whole-exon sequencing (WES) was performed to confirm diagnosis before the second surgery.ResultsA homozygous missense mutation (c.395G>A/p.C132Y) in WISP3 was identified that co-segregated with affected family members.ConclusionsOur study illustrated a surgical outcome of PPD and highlighted the significance of early diagnosis and individualized surgical strategy, and also verified the value of WES in the diagnosis of PPD.