Resolution of femoral metaphyseal dysplasia in CINCA syndrome after long-term treatment with interleukin-1 blockade
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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.
KeywordsAnakinra Canakinumab CINCA syndrome Knee Radiography
Compliance with ethical standards
A formal written informed consent was released by both patient’s parents and patient himself for the publication of this case based review.
- 11.Cantarini L, Iacoponi F, Lucherini OM, Obici L, Brizi MG, Cimaz R, Rigante D, Benucci M, Sebastiani GD, Brucato A, Sabadini L, Simonini G, Giani T, Pasini FL, Baldari CT, Bellisai F, Valentini G, Bombardieri S, Paolazzi G, Galeazzi M (2011) Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults. Int J Immunopathol Pharmacol 24:695–702CrossRefPubMedGoogle Scholar
- 15.Hill SC, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R (2007) Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol 37:45–52Google Scholar
- 18.Sibley CH, Chioato A, Felix S, Colin L, Chakraborty A, Plass N, Rodriguez-Smith J, Brewer C, King K, Zalewski C, Kim HJ, Bishop R, Abrams K, Stone D, Chapelle D, Kost B, Snyder C, Butman JA, Wesley R, Goldbach-Mansky R (2015) A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease. Ann Rheum Dis 74:1714–1719CrossRefPubMedGoogle Scholar