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Multiple Joint Replacements for Progressive Pseudorheumatoid Dysplasia: A Case Report.
J Orthop Case Rep
April 2024
Department of Orthopedic and Trauma, Cliniques Universitaires Saint-Luc UCL, UCLouvain, Bruxelles, Belgium.
Article Synopsis
- Progressive pseudorheumatoid dysplasia is a rare genetic disorder caused by a mutation in the Wnt1-inducible signaling protein 3 gene, with limited reported cases.
- The case of a 19-year-old Caucasian male is presented, who experienced severe joint involvement and underwent multiple surgeries, including total hip and knee replacements due to rapid disease progression.
- This report emphasizes the need for accurate diagnosis of rare diseases and the potential benefits of joint replacements to restore function, even in younger patients.
Progressive pseudorheumatoid dysplasia: a case series report.
Transl Pediatr
July 2021
Department of Endocrinology, Children's Hospital Capital Institute of Pediatrics, Beijing, China.
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.
View Article and Find Full Text PDFCoexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis.
Pediatr Rheumatol Online J
September 2020
Department of Genomics, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
Background: A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA.
Case Presentation: An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.
Progressive Pseudo-rheumatoid Dysplasia: Two Cases in One Family.
Mymensingh Med J
July 2020
Dr Md Faysal Ahmmed, Assistant Professor, Department of Rheumatology, Akiz Addin Medical College, Khulna, Bangladesh.
Progressive pseudo-rheumatoid dysplasia is an autosomal recessive skeletal dysplasia. Spine radiographs show platyspondyly. The clinical presentations are similar to juvenile idiopathic arthritis, but not the laboratory findings.
View Article and Find Full Text PDFProgressive pseudorheumatoid dysplasia: a rare childhood disease.
Rheumatol Int
March 2019
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via della Commenda 9, 20122, Milan, Italy.
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.
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