ReviewRheumatology international2019
Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Review in Rheumatology international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.European journal of pediatrics · 2025Article
- Treatment With Romosozumab In Progressive Pseudorheumatoid Dysplasia.JCEM case reports · 2025Article
- Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Juvenile Idiopathic Arthritis: Advanced Joint Destruction.Cureus · 2025Article
- Proximal Tibial Fracture in Pseudo-Rheumatoid Synovial Chondromatosis: A Case Study.Journal of orthopaedic case reports · 2024Article
- Get Spliced: Uniting Alternative Splicing and Arthritis.International journal of molecular sciences · 2024Review
- Multiple Joint Replacements for Progressive Pseudorheumatoid Dysplasia: A Case Report.Journal of orthopaedic case reports · 2024Article
- Dual roles of cellular communication network factor 6 (CCN6) in the invasion and metastasis of oral cancer cells to bone via binding to BMP2 and RANKL.Carcinogenesis · 2023Article
- Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.World journal of pediatrics : WJP · 2023Article
- Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia.Children (Basel, Switzerland) · 2022Article
- Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature.BMC musculoskeletal disorders · 2022Review
- Mesenchymal stromal cells from a progressive pseudorheumatoid dysplasia patient show altered osteogenic differentiation.European journal of medical research · 2022Article
- A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.Clinical rheumatology · 2022Article
- Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations.Bone reports · 2021Article
- CCN proteins in the musculoskeletal system: current understanding and challenges in physiology and pathology.Journal of cell communication and signaling · 2021Review
- Progressive pseudorheumatoid dysplasia: A rare entity mimicking juvenile idiopathic arthritis.Clinical case reports · 2021Article
- Progressive pseudorheumatoid dysplasia: a case series report.Translational pediatrics · 2021Article
- CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.Molecular genetics & genomic medicine · 2020Article
- Pseudorheumatoid Arthropathy of Childhood: A Mimicker of Juvenile Idiopathic Arthritis.Indian journal of pediatrics · 2019Article
- A Novel Homozygous Frameshift Mutation inFrontiers in pediatrics · 2019Article
- Spine radiograph in dysplasias: A pictorial essay.The Indian journal of radiology & imagingArticle
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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) gene, which encodes a signalling factor involved in cartilage homeostasis. The disease onset in childhood and skeletal changes progresses over time leading to significant disability. PPRD is a rare condition that should be suspected if a child develops symmetrical polyarticular involvement without systemic inflammation, knobbly interphalangeal joints of the hands, and gait abnormalities. A full skeletal survey, or at least a lateral radiograph of the spine, can direct towards a correct diagnosis that can be confirmed molecularly. More than 70 WISP3 mutations have so far been reported. Genetic testing should start with the study of genomic DNA extracted from blood leucocytes, but intronic mutations in WISP3 causing splicing aberrations can only be detected by analysing WISP3 mRNA, which can be extracted from cultured skin fibroblasts. A skin biopsy is, therefore, indicated in patients with typical PPRD findings and negative mutation screening of genomic DNA.
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