Progressive pseudorheumatoid dysplasia: a case series report.

Abstract

rogressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, noninflammatory arthropathy. Several cases have been reported worldwide; however, diagnosis remains challenging. Three unrelated children with PPRD were retrospectively studied. All three patients in this study were initially misdiagnosed. The misdiagnoses included juvenile rheumatoid arthritis, myodystrophy and idiopathic short stature. The time from the onset of symptoms to a definitive diagnosis was 3 to 8 years. Clinical signs and radiological phenotypes were analyzed carefully, and they were all consistent with the characteristics of PPRD and noninflammatory polyarticular enlargement. The small joints of both the hands and lower limbs are the most affected. The imaging findings of the patients were flat vertebrae with beak- or bullet-like changes in front of the cone and peripheral metaphysis widening. DNA samples obtained from the family were sequenced to identify the causal gene using whole-exome sequencing (WES). Four Wnt1-inducible signaling pathway protein 3 (WISP3) mutations were verified. c.271delC was not reported previously. The other three mutations, namely, c.136C>T (p. Gln46*), c.667T>G (p. Cys223Gly) and c.589+2T>C, were previously identified. All three patients had a long journey to diagnosis. Early genetic diagnosis can help prevent unnecessary treatments and procedures in patients. Growth hormone is not a good choice for treatment.