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.
ABSTRACT
Objective To improve the understanding of progressive pseudorheumatoid dysplasia (PPD). Methods The clinical and roentgeno graphic features of two patients with PPD diagnosed in our department were analysed, and the related literature was reviewed. Results The patients first experienced the osseous swelling in phalangeal joints of both hands in childhood, and progressively almost all joints were involved. The spine was also involved. By analyzing the clinical information of 53 cases, it was found that PPD involved both male and female similarly. The ages at onset of first symptoms, were from 1 to 10 years, and in seventy seven percent of patients the ages were 3 years to 5 years. Clinical features included progressive involvement of the major joints, including small joints of the hands, hips, knees, ankles, wrists and shoulders. Premature osteoarthritis developed in early adult life, and it was the major reason of disability. 38% of patients were short in stature. The roentgenographic features consisted of generalized platyspondyla with irregular delineation of the endplates of the vertebral bodies, varying degrees of epiphyseal involvement with enlargement of the large joints, metacarpal heads and phalanges, secondary degenerative arthritis with periarticular osteoporosis. The symptoms of PPD were similar to those of rheumatoid arthritis (RA), but differed from it by the Absence of synovitis and other inflammatory changes, and radiographically by the Absence of destructive changes and the presence of dysplastic bone changes. There was no specific treatment for cure. Conclusion PPD is a rare autosomal recessive skeletal disorder associated with WISP3 gene mutations. Its clinical features and typical roentgenographic features are helpful to the diagnosis.