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Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy

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Abstract

A 14-year-old boy presented with a 10-year history of the "sicca" form of seronegative juvenile idiopathic polyarthritis. Severely limited range of motion, pain, and capsular swelling in both small and large weight-bearing joints left him wheelchair-bound. Erythrocyte sedimentation rate and C-reactive protein were normal. Two-phase bone scan revealed tracer uptake of almost every joint at both early and late time points, indicating pathologic exudation and enhanced bone metabolism consistent with severe arthritis. However, radiographic studies revealed no erosive arthropathy but severe osteopenia, dysplastic bone changes, mega os trigonum, and platyspondylia. A magnetic resonance imaging (MRI) scan of the hips showed no signs of synovitis, pannus, or effusion but cartilage irregularities and subchondral cysts. These findings strongly suggested the diagnosis of progressive pseudorheumatoid dysplasia of childhood, an autosomal-recessive disorder of cartilage homeostasis. The patient carries a novel homozygous two-nucleotide deletion in exon 4 of the WISP3 gene. This genetic disorder is an important differential diagnosis of sicca polyarthritis.

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Acknowledgements

Molecular testing was performed thanks to the European Skeletal Dysplasia Network (http://www.esdn.org). We are thankful to Dr. Matthew L. Warman and the Center for the Study of Genetic Bone and Joint Disease (Case Western Reserve University, Cleveland, Ohio, USA) for assistance in performing the molecular study.

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Authors and Affiliations

  1. Center for Pediatrics and Adolescent Medicins, University Clinic, Mathildenstrasse 1, 79106, Freiburg, Germany

    Stephan Ehl & Reinhard Berner

  2. Department of Diagnostic Radiology, Pediatric Radiology Section, University Clinic, Hugstetter Strasse 55, 79106, Freiburg, Germany

    Markus Uhl

  3. Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, 1011, Lausanne, Switzerland

    Luisa Bonafé & Andrea Superti-Furga

  4. University Pediatric Clinic, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany

    Antje Kirchhoff

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  1. Stephan Ehl
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  2. Markus Uhl
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  3. Reinhard Berner
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  4. Luisa Bonafé
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  5. Andrea Superti-Furga
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  6. Antje Kirchhoff
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Correspondence to Stephan Ehl.

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Ehl, S., Uhl, M., Berner, R. et al. Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. Rheumatol Int 24, 53–56 (2004). https://doi.org/10.1007/s00296-003-0341-0

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  • DOI: https://doi.org/10.1007/s00296-003-0341-0

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