Clinical, radiographic and genetic diagnosis of progressive pseudorheumatoid dysplasia in a case with literature review / 中华风湿病学杂志

ABSTRACT

Objective To report a case of progressive pseudorheumatoid dysplasia (PPD) with two kinds of WISP3 gene mutation. Methods A case of PPD was reported. Its clinical profile and the process of diagnosis were analyzed, and the related literature were reviewed. Results A 15-years old boy, who developed progressive joint pain and enlargement with spine involvement, was diagnosed as PPD. The erythrocyte sedimentation rate and C-reactive protein were in normal range, rheumatoid factor and anti-CCP antibody were all negative. HLA-B27 was also negative. Gene study discovered two kinds of mutations in Wnt1-inducible signaling pathway protein 3 (WISP3) gene c.589+2T＞C and c.624dupA. Radiographic studies revealed severe osteoporosis without erosion, platyspondylia, enlargement of metaphysis and scoliosis deformity. The joint space of sacroiliac joint and articulation of pubis were significantly widened. Conclusion PPD is a rare autosomal recessive disorder characterized by cartilage homeostasis. It is associated with WISP3 gene mutations. Gene detection, laboratory examination and typical radiographic features are helpful for the diagnosis. This is the first report of c.589+2T＞C and c.624dupA mutations in patients with PPD in our country.