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.

A Rare Skeletal Dysplasia-Close Mimicker of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia

“…[6][7] This mutated gene found in our case has been previously witnessed in other clinical reports of PPRD as well. [8][9][10] Treatment to manage overall condition is NSAIDs which reduce the severity of pain and preserve joint mobility, as no definite cure is available. Genetic counselling was done of the family and they were informed about the risk of recurrence which is 25% in each pregnancy event.…”

CCN6 influences transcription and controls mitochondrial mass and muscle organization

“…PPRD is characterized by miscellaneous musculoskeletal defects including loss of cartilage, muscle weakness, bone deformities and stunted growth. 9,10,12,[18][19][20][21][22] PPRD linked CCN6 mutations being autosomal recessive in nature, the disease caused by either homozygous or compound heterozygous mutations, is manifested usually in communities practicing consanguineous marriages. A neglected disease by definition, PPRD has been found to be prevalent in several pockets all over the world.…”

Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients

“…The first seven Chinese cases were reported in 1986 without genetic confirmation [ 3 ]. Due to the low incidence of PPRD, currently published case reports or series often consist of only a few patients [ 4 – 6 ]. Neither large cohort analyses nor epidemiological surveys of PPRD have been conducted in China.…”