Progressive pseudorheumatoid dysplasia: A rare entity mimicking juvenile idiopathic arthritis

Abstract 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.707delG pathogenic variant in the WISP3 gene. The proband was referred at 10 years old for possible diagnosis of polyarticular JIA based on progressive arthropathy for three years. He was already on naproxen and methotrexate. We suspected familial noninflammatory arthropathy based on clinical manifestations, imaging findings, and family history. WES confirmed the molecular diagnosis of PPRD in the proband and one sister with a similar phenotype. An unexpected p.A744S MEFV pathogenic variant was detected in the proband, parents, and affected sister. Conclusions Early identification and diagnosis of familial noninflammatory arthropathies such as PPRD can prevent unnecessary use of immunosuppressive medications. Diagnosis requires high suspicion in children with early onset arthritic changes, absence of elevated inflammatory markers, specific imaging findings, and positive family history suggestive of an autosomal recessive disorder. We highlight the advantages of WES over single-gene analysis in such cases.

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Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis

Ethiopian Journal of Health Sciences ◽

10.4314/ejhs.v26i4.12 ◽

2016 ◽

Vol 26 (4) ◽

pp. 397 ◽

Cited By ~ 2

Author(s):

Ozgur Taspinar ◽

Fatih Kelesoglu ◽

Yasar Keskin ◽

Murat Uludag

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Progressive Pseudorheumatoid Dysplasia

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A rare type of skeletal dysplasia resembling rheumatoid arthritis

QJM ◽

10.1093/qjmed/hcaa063.022b ◽

2020 ◽

Vol 113 (Supplement_1) ◽

Author(s):

S Elsayed ◽

R Gamal

Keyword(s):

Rheumatoid Arthritis ◽

Juvenile Idiopathic Arthritis ◽

Biochemical Markers ◽

Lumbar Lordosis ◽

Rare Type ◽

Joint Contractures ◽

Progressive Pseudorheumatoid Dysplasia ◽

Markers Of Inflammation ◽

Precise Diagnosis ◽

Morquio Syndrome

Abstract Progressive pseudorheumatoid dysplasia is a rare type of spondylo-epi-metaphyseal dysplasia that can be confused clinically and radiologically with juvenile idiopathic arthritis. Precise diagnosis is essential to avoid unnecessary investigation and treatment. The disease is characterized by predominant involvement of joints with progressive limitation of movement with absence of clinical and biochemical markers of inflammation. Here we report three children (two boys and one girl) with this rare disease. Their age of presentation ranged from 3-5 years with pain, swelling and deformities of interphalangeal joints of both hands which progressed with time to joint contractures. Other affected joints included elbows and knees. Back was involved in the oldest patient with lumbar lordosis. All three patients had short stature and normal mentality. The patients had several misdiagnoses before referral to the genetics clinic including rheumatoid arthritis and Morquio syndrome which was excluded by proper investigations. In conclusion, Progressive pseudorheumatoid dysplasia can be confused with Juvenile rheumatoid arthritis as well as other MPS diseases, both clinically and radiologically. Early diagnosis is mandatory to avoid associated disabilities and to avoid unnecessary investigations and treatment

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Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-03082-z ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Anjumanara Anver Omar ◽

Salman Ahmed ◽

John Chris Rodrigues ◽

Allan Kayiza ◽

Lawrence Owino

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Signaling Pathway ◽

Joint Stiffness ◽

Unknown Etiology ◽

Rheumatology Clinic ◽

Case Presentation ◽

Progressive Pseudorheumatoid Dysplasia ◽

History Of ◽

Spondyloepimetaphyseal Dysplasia ◽

Chronic Rheumatic Disease

Abstract Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. Case presentation A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. Conclusion Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.

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Progressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis

BMJ Case Reports ◽

10.1136/bcr-2016-214849 ◽

2016 ◽

pp. bcr2016214849 ◽

Cited By ~ 1

Author(s):

Partha Pratim Chakraborty ◽

Sugata Narayan Biswas ◽

Shinjan Patra ◽

Gouranga Santra

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Progressive Pseudorheumatoid Dysplasia

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13 year old Female with Progressive Pseudorheumatoid Dysplasia misdiagnosed as Juvenile idiopathic arthritis

10.21203/rs.3.rs-53449/v1 ◽

2020 ◽

Author(s):

Anjumanara Anver Omar ◽

Salman Ahmed ◽

John Chris Rodrigues ◽

Lawrence Owino

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Musculoskeletal Disorder ◽

Joint Stiffness ◽

Early Osteoarthritis ◽

Bone Deformity ◽

Rheumatology Clinic ◽

Case Presentation ◽

Progressive Pseudorheumatoid Dysplasia ◽

History Of ◽

Chronic Rheumatic Disease

Abstract Background: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood and is of unknown aetiology. Progressive pseudorheumotoid dysplasia is a rare, autosomal recessively inherited, non-inflammatory musculoskeletal disorder caused by mutations occurring in the WISP3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. The clinical features resemble juvenile idiopathic arthritis (JIA), and patients with PPD are usually misdiagnosed as JIA.Case Presentation: A 13 year old female presented to the rheumatology clinic with history of joint pains, bone pains and bone deformity for 5 years. Weight and Height were below the 3rd centiles. There was none tender swelling of metacarpophalangeal and interphalangeal joints and with scoliosis. Radiographs of the hands revealed widening of the epiphyses. With these findings Progressive Pseudorhematoid Dysplasia was suspected and genetic testing for WISP1, WISP2 and WISP3 was requested. A homozygous, likely pathogenic, variant was identified in WISP3 gene which confirmed our diagnosis.Conclusion: Progressive Pseudorhematoid Dysplasia is a rare form of spondylo-epi-metaphyseal dysplasia and clinically misdiagnosed as Juvenile Idiopathic arthritis. It’s important to consider PPD especially in patients with normal inflammatory markers who are being followed up for arthritis and not improving on anti-rheumatic intervention.

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