Progressive pseudorheumatoid dysplasia: a rare childhood disease

  title={Progressive pseudorheumatoid dysplasia: a rare childhood disease},
  author={S. Torreggiani and Marta Torcoletti and Belinda Campos-Xavier and Francesco Baldo and Carlo Agostoni and Andrea Superti-Furga and Giovanni Filocamo},
  journal={Rheumatology International},
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic bone disorder characterised by the progressive degeneration of articular cartilage that leads to pain, stiffness and joint enlargement. As PPRD is a rare disease, available literature is mainly represented by single case reports and only a few larger case series. Our aim is to review the literature concerning clinical, laboratory and radiological features of PPRD. PPRD is due to a mutation in Wnt1-inducible signalling protein 3 (WISP3… Expand
Progressive pseudorheumatoid dysplasia: a case series report.
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  • 2021
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The findings suggest that in order to avoid misdiagnosis, physicians should carefully examine the entire skeleton, including the spine, in addition to the skeletal extremities, for PPD. Expand
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
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Progressive pseudorheumatoid dysplasia: three cases in one family.
Progressive pseudorheumatoid dysplasia is an autosomal recessive disease characterized by abnormal cartilage homeostasis and should be included among the differential diagnoses of juvenile idiopathic arthritis. Expand
La chondrodysplasie pseudorhumatoïde progressive. A propos d'un cas
A 17 year-old patient suffering from progressive pseudorheumatoid chondrodysplasia from whom 2 total hip prostheses and 2 total knee prostheses were necessary is presented with a recessive autosomal genetic disorder characterized by an early degeneration of the joints. Expand
Clinical and radiological diagnosis of progressive pseudorheumatoid dysplasia in two sisters with severe polyarthropathy
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Progressive pseudorheumatoid dysplasia.
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Progressive pseudorheumatoid dysplasia
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Diagnosis and surgical treatment of progressive pseudorheumatoid dysplasia in an adult with severe spinal disorders and polyarthropathy.
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Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
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