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Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade

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Abstract

Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare autoinflammatory disorder driven by uncontrolled hypersecretion of interleukin (IL)-1, which can be clinically depicted by striking cutaneous, neurologic, and skeletal features. Little is known about the exact pathogenesis of CINCA bone disease, which mainly involves the knees. We report a 20-year-old CINCA patient, who was consecutively treated firstly with anakinra, started at 7 years, then with full dose canakinumab, started at 17 years, focusing on the typical bone abnormalities of the syndrome: the comparison of radiographs of knees performed at 7 and 20 years has shown the disappearance of a typical metaphyseal dysplasia occurring in the femurs of this CINCA patient, regularly treated with IL-1 blockade for a period of 13 years. A review of the medical literature reveals poor information on the skeletal response of CINCA syndrome to IL-1-inhibiting therapies. This contribution confirms the protean striking effects of IL-1 blockade in this peculiar autoinflammatory disorder, showing for the first time the reversal of the characteristic CINCA metaphyseal dysplasia over long-term treatment.

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Authors and Affiliations

  1. Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy

    Donato Rigante

  2. Institute of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy

    Raffaele Manna & Elena Verrecchia

  3. Institute of Orthopaedics and Traumatology, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy

    Raffaella Marrocco

  4. Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy

    Antonio Leone

Authors
  1. Donato Rigante
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  2. Raffaele Manna
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  3. Elena Verrecchia
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  4. Raffaella Marrocco
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  5. Antonio Leone
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Correspondence to Donato Rigante.

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A formal written informed consent was released by both patient’s parents and patient himself for the publication of this case based review.

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Rigante, D., Manna, R., Verrecchia, E. et al. Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade. Clin Rheumatol 37, 2007–2009 (2018). https://doi.org/10.1007/s10067-018-4145-8

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  • DOI: https://doi.org/10.1007/s10067-018-4145-8

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