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Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

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Abstract

Five patients with multicentric carpal-tarsal osteolysis are presented: a mother and her three children with an autosomal dominant mode of inheritance and one of the children with nephropathy, the fifth a sporadic case also with renal involvement. The main findings common to these five patients are symptoms and signs simulating arthritis of the wrists and/or ankles starting at a young age and mimicking juvenile idiopathic arthritis. Early signs of osteolysis and shortening of the carpus or tarsus are radiological characteristic. The disease may be associated with a peculiar face, but most importantly with nephropathy. The pathogenesis is still unknown. Conclusion: recognition of this disease and differentiation from juvenile idiopathic arthritis is important to avoid unnecessary investigations and treatment. Follow-up of renal function is indicated.

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Abbreviations

JCA :

juvenile chronic arthritis

JIA :

juvenile idiopathic arthritis

MCTO :

multicentric carpal-tarsal osteolysis

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Authors and Affiliations

  1. Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands

    Marianne R. Faber & René Verlaak

  2. Department of Paediatric Rheumatology, University Medical Centre Nijmegen, 435 CUKZ, 9101, 6500 HB , Nijmegen, The Netherlands

    Theo J. W. Fiselier

  3. Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands

    Ben C. J. Hamel

  4. Department of Rheumatology, St Maartenskliniek, Nijmegen, The Netherlands

    Marcel J. A. M. Franssen

  5. Department of Paediatrics, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands

    G. Peter J. M. Gerrits

Authors
  1. Marianne R. Faber
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  2. René Verlaak
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  3. Theo J. W. Fiselier
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  4. Ben C. J. Hamel
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  5. Marcel J. A. M. Franssen
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  6. G. Peter J. M. Gerrits
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Correspondence to Theo J. W. Fiselier.

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Faber, M.R., Verlaak, R., Fiselier, T.J.W. et al. Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis. Eur J Pediatr 163, 612–618 (2004). https://doi.org/10.1007/s00431-004-1502-1

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  • DOI: https://doi.org/10.1007/s00431-004-1502-1

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