Clinical care of children with sterile bone inflammation

Current Opinion in Rheumatology

Volumn 23, Issue 5, 2011, Pages 424-431

  Twilt, Marinka ^a   Laxer, Ronald M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

biologics; cherubism; chronic recurrent multifocal osteomyelitis; deficiency of interleukin 1 receptor antagonist; pamidronate

Indexed keywords

ANTIBIOTIC AGENT; AUTOANTIBODY; AZITHROMYCIN; BISPHOSPHONIC ACID DERIVATIVE; C REACTIVE PROTEIN; COLCHICINE; CORTICOSTEROID; DISEASE MODIFYING ANTIRHEUMATIC DRUG; GAMMA INTERFERON; INDOMETACIN; INFLIXIMAB; INTERLEUKIN 1 ANTIBODY; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; METHOTREXATE; NAPROXEN; NONSTEROID ANTIINFLAMMATORY AGENT; PAMIDRONIC ACID; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; SALAZOSULFAPYRIDINE; TUMOR NECROSIS FACTOR ALPHA INHIBITOR;

ALGORITHM; ANTIBIOTIC THERAPY; AUTOINFLAMMATORY DISEASE; BONE RADIOGRAPHY; BONE SCINTISCANNING; CHILD CARE; CHRONIC OSTEOMYELITIS; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CONTRACTURE; DEFICIENCY OF INTERLEUKIN 1 RECEPTOR ANTAGONIST; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE SEVERITY; DISEASE TRANSMISSION; DRUG TREATMENT FAILURE; ERYTHROCYTE SEDIMENTATION RATE; FEVER; FIBROUS DYSPLASIA; FRACTURE HEALING; GENE MUTATION; GENETIC SUSCEPTIBILITY; HISTOPATHOLOGY; HUMAN; IMMUNOPATHOGENESIS; MAJEED SYNDROME; MISSENSE MUTATION; MYALGIA; NEUTROPHIL CHEMOTAXIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSIOTHERAPY; PRIORITY JOURNAL; PROGNOSIS; PROMOTER REGION; REMISSION; REVIEW; SAPHO SYNDROME; SKIN MANIFESTATION; T LYMPHOCYTE; TREATMENT RESPONSE; WHOLE BODY MRI;

ACQUIRED HYPEROSTOSIS SYNDROME; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; ANTI-INFLAMMATORY AGENTS, NON-STEROIDAL; CHERUBISM; CHILD; FEMALE; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MAGNETIC RESONANCE IMAGING; MALE; OSTEITIS; OSTEOMYELITIS;

EID: 80052034092     PISSN: 10408711     EISSN: 15316963     Source Type: Journal    
DOI: 10.1097/BOR.0b013e328349c363     Document Type: Review

References (93)

1. Gattorno M, Federici S, Pelagatti MA, et al. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 2008; 28 (SUPPL 1): S73-S83.
2. Ferguson PJ, El-Shanti HI. Autoinflammatory bone disorders. Curr Opin Rheumatol 2007; 19:492-498. (Pubitemid 47344244)
3. Gattorno M, La Regina M, Martini A, Manna R. An update on autoinflammatory diseases. New concepts for new and old diseases. Clin Exp Rheumatol 2009; 27:354-365.
4. Masters SL, Simon A, Aksentijevech I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009; 27:621-668.
5. Giedion A, Holthusen W, Masel LF, Vischer D. Subacute and chronic 'symmetrical' osteomyelitis. Ann Radiol (Paris) 1972; 15:329-342.
6. Probst FP, Bjorksten B, Gustavson KH. Radiological aspect of chronic recurrent multifocal osteomyelitis. Ann Radiol (Paris) 1978; 21:115-125. (Pubitemid 8370361)
7. Girschick HJ, Huppertz HI, Harmsen D, et al. Chronic recurrent multifocal osteomyelitis in children: diagnostic value of histopathology and microbial testing. Hum Pathol 1999; 30:59-65. (Pubitemid 29037395)
8. Girschick HJ, Zimmer C, Klaus G, et al. Chronic recurrent multifocal osteomyelitis: what is it and how should it be treated? Nat Clin Pract Rheumatol 2007; 3:733-738. (Pubitemid 350187019)
9. Catalano-Pons C, Comte A, Wipff J, et al. Clinical outcome in children with chronic recurrent multifocal osteomyelitis. Rheumatology (Oxford) 2008; 47:1397-1399.
10. Girschick HJ, Raab P, Surbaum S, et al. Chronic nonbacterial osteomyelitis in children. Ann Rheum Dis 2005; 64:279-285.
11. Beck C, Marbach H, Beer M et al. Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment. Arthritis Res Ther 2010 12:R74.
12. Eleftheriou D Gerschman T, Sebire N et al. Biologic therapy in refractory chronic nonbacterial osteomyelitis of childhood. Rheumatology (Oxford) 2010; 49:1505-1512.
13. Baltensperger M, Grä tz K, Bruder E, et al. Is primary chronic osteomyelitis a uniform disease? Proposal of a classification based on a retrospective analysis of patients treated in the past 30 years. J Craniomaxillofac Surg 2004; 32:43-50. (Pubitemid 38228652)
14. Bergdahl K, Bjö kstén B, Gustavson KH, Probst F. Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. Dermatologica 1979; 159:37-45. (Pubitemid 9220638)
15. Bjorksten B, Gustavson KH, Eriksson B, et al. Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris. J Pediatr 1978; 93:227-231. (Pubitemid 8380033)
16. Laxer RM, Shore AD, Manson D, et al. Chronic recurrent multifocal osteomyelitis and psoriasis: a report of a new association and review of related disorders. Semin Arthritis Rheum 1988; 17:260-270.
17. Hospach T, von den Driesch P, Dannecker GE. Acute febrile neutrophilic dermatosis (Sweet's syndrome) in childhood and adolescence: two new patients and review of the literature on associated diseases. Eur J Pediatr 2009; 168:1-9.
18. Chamot AM, et al. Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases. Rev Rhum Mal Osteoartic 1987; 54:187-196. (Pubitemid 17033750)
19. Huber AM, Lam PY, Duffy C, et al. Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up. J Pediatr 2002; 141:198-203.
20. Job-Deslandre C, Krebs S, Kahan A. Chronic recurrent multifocal osteomyelitis: five-year outcomes in 14 pediatric cases. Joint Bone Spine 2001; 68:245-251. (Pubitemid 32464006)
21. Grosjean C, Hurtado-Nedelec M, Nicaise-Roland P et al. Prevalence of autoantibodies in SAPHO syndrome: a single-center study of 90 patients. J Rheumatol 2010; 37:639-643.
22. Hurtado-Nedelec M, Chollet-Martin S, Nicaise-Roland P, et al. Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes. J Rheumatol 2008; 37:401-409.
23. Beretta-Piccoli BC, Sauvain MJ, Gal I, et al. Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome in childhood: a report of ten cases and review of the literature. Eur J Pediatr 2000; 159:594-601. (Pubitemid 30469447)
24. Assmann G, Kueck O, Kirchhoff T, et al. Efficacy of antibiotic therapy for SAPHO syndrome is lost after its discontinuation: an interventional study. Arthritis Res Ther 2009; 11:R140.
25. Schultz C, Holterhus PM, Seidel A, et al. Chronic recurrent multifocal osteomyelitis in children. Pediatr Infect Dis J 1999; 18:1008-1013.
26. Jansson A, Renner ED, Ramser J, et al. Classification of nonbacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford) 2007; 46:154-160. (Pubitemid 44932805)
27. Ferguson PJ, Bing X, Vasef MA, et al. A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 2006; 38:41-47. (Pubitemid 43006073)
28. Hamel J, Paul D, Gahr M Hedricj CM. Pilot study: possible association of IL10 promoter polymorphisms with CRMO. Rheumatol Int 2011 [Epub ahead of print].
29. Morbach H, Dick A, Beck C, et al. Association of chronic nonbacterial osteomyelitis with Crohn's disease but not with CARD15 gene variants. Rheumatol Int 30:617-621.
30. Vittecoq O, Said LA, Michot C, et al. Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term. Arthritis Rheum 2000; 43:109-119. (Pubitemid 30368219)
31. Rohekar G, Inman RD. Conundrums in nosology: synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome and spondylarthritis. Arthritis Rheum 2006; 55:665-669. (Pubitemid 44289889)
32. Monsour PA, Dalton JB. Chronic recurrent multifocal osteomyelitis involving the mandible: case reports and review of the literature. Dentomaxillofac Radiol 39:184-190.
33. McPhillips A, Wolford LM, Rodrigues DB. SAPHO syndrome with TMJ involvement: review of the literature and case presentation. Int J Oral Maxillofac Surg 39:1160-1167.
34. Mandell GA, Contreras SJ, Conard K, et al. Bone scintigraphy in the detection of chronic recurrent multifocal osteomyelitis. J Nucl Med 1998; 39:1778-1783. (Pubitemid 28473530)
35. Salles M, Olivé A, Perez-Andres R, et al. The SAPHO syndrome: a clinical and imaging study. Clin Rheumatol 2011; 30:245-249.
36. Schilling F, Kessler S. SAPHO syndrome: clinico-rheumatologic and radiologic differentiation and classification of a patient sample of 86 cases. Z Rheumatol 2000; 59:1-28. (Pubitemid 30148793)
37. Tlougan BE, Podjasek JO, O'Haver J, et al. Chronic recurrent multifocal osteomyelitis (CRMO) and synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome with associated neutrophilic dermatoses: a report of seven cases and review of the literature. Pediatr Dermatol 2009; 26:497-505.
38. Fritz J, Tzaribatchev N, Claussen CD, et al. Chronic recurrent multifocal osteomyelitis: comparison of whole-body MR imaging with radiography and correlation with clinical and laboratory data. Radiology 2009; 252: 842-851.
39. Hospach T Langendoerfer M, Von Kalle T, et al. Spinal involvement in chronic recurrent multifocal osteomyelitis (CRMO) in childhood and effect of pamidronate. Eur J Pediatr 2010; 169:1105-1111.
40. Khanna G, Sato TS, Ferguson P. Imaging of chronic recurrent multifocal osteomyelitis. Radiographics 2009; 29:1159-1177.
41. Haydar AA, Gikas P, Saifuddin A. Case report: Chronic recurrent multifocal osteomyelitis: a case report and role of whole-body MRI. Clin Radiol 2009; 64:641-644.
42. Bj0rksten B, Boquist L. Histopathological aspects of chronic recurrent multifocal osteomyelitis. J Bone Joint Surg Br 1980; 62:376-380. (Pubitemid 10084907)
43. Gikas PD, Islam L, Aston W, et al. Nonbacterial osteitis: a clinical, histopathological, and imaging study with a proposal for protocol-based management of patients with this diagnosis. J Orthop Sci 2009; 14:505-516.
44. Fritz J, Tzaribachev N, Thomas C, et al. magnetic resonance imaging-guided osseous biopsy in children with chronic recurrent multifocal osteomyelitis. Cardiovasc Intervent Radiol 2011 [Epub ahead of print]. This article discusses MRI-guided biopsies for diagnostic biopsies.
45. Girschick HJ, Mornet E, Beer M, et al. Chronic multifocal nonbacterial osteomyelitis in hypophosphatasia mimicking malignancy. BMC Pediatr 2007; 7:3.
46. Abril JC, Ramirez A. Successful treatment of chronic recurrent multifocal osteomyelitis with indomethacin: a preliminary report of five cases. J Pediatr Orthop 2007; 27:587-591. (Pubitemid 46992063)
47. Schilling F, Wagner AD. Azithromycin: an anti-inflammatory effect in chronic recurrent multifocal osteomyelitis? A preliminary report. Z Rheumatol 2000; 59:352-353.
48. Littlewood-Evans AJ, Hattenberger M, Zak O, O'Reilly T. Effect of combination therapy of rifampicin and azithromycin on TNF levels during a rat model of chronic osteomyelitis. J Antimicrob Chemother 1997; 39:493-498. (Pubitemid 27196947)
49. Shimizu M, Tone Y, Toga A, et al. Colchicine-responsive chronic recurrent multifocal osteomyelitis with MEFV mutations: a variant of familial Mediterranean fever? Rheumatology (Oxford) 2010; 49:2221-2223.
50. Holden W, David J. Chronic recurrent multifocal osteomyelitis: two cases of sacral disease responsive to corticosteroids. Clin Infect Dis 2005; 40:616-619. (Pubitemid 40270236)
51. Rozin AP, Nahir AM. Is SAPHO syndrome a target for antibiotic therapy? Clin Rheumatol 2007; 26:817-820. (Pubitemid 46554104)
52. Amital H, Applbaum YH, Aamar S, et al. SAPHO syndrome treated with pamidronate: an open-label study of 10 patients. Rheumatology (Oxford) 2004; 43:658-661. (Pubitemid 38628200)
53. Courtney PA, Hosking DJ, Fairbairn KJ, Deighton CM. Treatment of SAPHO with pamidronate. Rheumatology (Oxford) 2002; 41:1196-1198.
54. Gleeson H, Wiltshire E, Briody J, et al. Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol 2008; 35:707-712. (Pubitemid 351500071)
55. Kopterides P, Pikazis D, Koufos C. Successful treatment of SAPHO syndrome with zoledronic acid. Arthritis Rheum 2004; 50:2970-2973. (Pubitemid 39209536)
56. Miettunen PM, Wei X, Kaura D, et al. Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J 2009; 7:2.
57. Siau K, Laversuch CJ. SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate: a case report and review of the literature. Rheumatol Int 2010; 30:1085-1088.
58. Siau K, Laversuch CJ. SAPHO syndrome in an adult with ulcerative colitis responsive to intravenous pamidronate. Joint Bone Spine 2010; 77:176-177.
59. Soyfoo MS, Gangji V, Margaux J. Successful treatment of SAPHO syndrome with ibandronate. J Clin Rheumatol 16:253.
60. Soubrier M, Dubrost JJ, Ristori JM, et al. Pamidronate in the treatment of diffuse sclerosing osteomyelitis of the mandible. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2001; 92:637-640. (Pubitemid 33601778)
61. Compeyrot-Lacassagne S, Rosenberg AM, Babyn P, Laxer RM. Pamidronate treatment of chronic noninfectious inflammatory lesions of the mandible in children. J Rheumatol 2007; 34:1585-1589. (Pubitemid 47068000)
62. Yamazaki Y, Satoh C, Ishikawa M, et al. Remarkable response of juvenile diffuse sclerosing osteomyelitis of mandible to pamidronate. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007; 104:67-71.
63. Kuijpers SC, de Jong E, Hamdy NA, van Merkelsteijn JP. Initial results of the treatment of diffuse sclerosing osteomyelitis of the mandible with bisphosphonates. J Craniomaxillofac Surg 2011; 39:65-68.
64. Simm PJ, Allen RC, Zacharin MR. Bisphosphonate treatment in chronic recurrent multifocal osteomyelitis. J Pediatr 2008; 152:571-575. (Pubitemid 351381031)
65. Kerrison C, Davidson JE, Cleary AG, Beresford MW. Pamidronate in the treatment of childhood SAPHO syndrome. Rheumatology (Oxford) 2004; 43:1246-1251. (Pubitemid 39359298)
66. Arias-Santiago S, Sanchez-Cano D, Callejas-Rubio JL, et al. Adalimumab treatment for SAPHO syndrome. Acta Derm Venereol 2010; 90:301-302.
67. Ben Abdelghani K, Dran DG, Gottenberg JE, et al. Tumor necrosis factoralpha blockers in SAPHO syndrome. J Rheumatol 2010; 37:1699-1704.
68. Carpenter E, Jackson MA, Friesen CA, et al. Crohn's-associated chronic recurrent multifocal osteomyelitis responsive to infliximab. J Pediatr 2004; 144:541-544. (Pubitemid 38457363)
69. Castellvi I, Bonet M, Narváez JA, Molina-Hinojosa JC. Successful treatment of SAPHO syndrome with adalimumab: a case report. Clin Rheumatol 2010; 29:1205-1207.
70. Deutschmann A, Mache CJ, Bodo K, et al. Successful treatment of chronic recurrent multifocal osteomyelitis with tumor necrosis factor-alpha blockage. Pediatrics 2005; 116:1231-1233. (Pubitemid 46056433)
71. Gallagher KT, Roberts RL, Macfarlane JA, Stiehm ER. Treatment of chronic recurrent multifocal osteomyelitis with interferon gamma. J Pediatr 1997; 131:470-472. (Pubitemid 27495216)
72. Iqbal M, Kolodney MS. Acne fulminans with synovitis-acne-pustulosis- hyperostosis-osteitis (SAPHO) syndrome treated with infliximab. J Am Acad Dermatol 2005; 52 (5 SUPPL 1):S118-S120.
73. Marangoni RG, Halpern AS. Chronic recurrent multifocal osteomyelitis primarily affecting the spine treated with anti-TNF therapy. Spine (Phila Pa 1976) 2010; 35:E253-256.
74. Massara A, Cavazzini PL, Trotta F. In SAPHO syndrome anti-TNF-alpha therapy may induce persistent amelioration of osteoarticular complaints, but may exacerbate cutaneous manifestations. Rheumatology (Oxford) 2006; 45:730-733. (Pubitemid 43985342)
75. Moll C, Hernández MV, Canete JD, et al. Ilium osteitis as the main manifestation of the SAPHO syndrome: response to infliximab therapy and review of the literature. Semin Arthritis Rheum 2008; 37:299-306. (Pubitemid 351389483)
76. Wagner AD, Andressen J, Jendro MC, et al. Sustained response to tumor necrosis factor alpha-blocking agents in two patients with SAPHO syndrome. Arthritis Rheum 2002; 46:1965-1968. (Pubitemid 34774530)
77. Colina M, Pizzirani C, Khodeir M, et al. Dysregulation of P2X7 receptorinflammasome axis in SAPHO syndrome: successful treatment with anakinra. Rheumatology (Oxford) 2010; 49:1416-1418.
78. Losada I, Sartori L, Di Gianontonio E, et al. Bisphosphonates in patients with autoimmune rheumatic diseases: can they be used in women of childbearing age? Autoimmun Rev 2010; 9:547-552.
79. Majeed HA, Kalaawi M,Mohanty D, et al. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr 1989; 115 (5 Pt 1): 730-734. (Pubitemid 19270263)
80. Majeed HA, El-Shanti H, Al-Rimawi H, Al-Masri M. On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr 2000; 137:441-442.
81. Majeed HA, A-Tawarna M, El-Shanti H, et al. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr 2001; 160:705-710. (Pubitemid 33139883)
82. Ferguson PJ, Chen S, Tayeh MK, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 2005; 42:551-557. (Pubitemid 40993830)
83. Jones W. Familial multilocular cystic disease of the jaws. Am J Cancer 1933; 17:946.
84. Peters WJ. Cherubism: a study of twenty cases from one family. Oral Surg Oral Med Oral Pathol 1979; 47:307-311. (Pubitemid 10158494)
85. Hyckel P, Berndt A, Schleier P, et al. Cherubism-new hypotheses on pathogenesis and therapeutic consequences. J Craniomaxillofac Surg 2005; 33:61-68. (Pubitemid 40197818)
86. Carvalho VM, Perdigão PF, Pimenta FJ, et al. A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. Oral Oncol 2008; 44:153-155. (Pubitemid 351179659)
87. Mukherjee PM, Wang CJ, Chen IP, et al. Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function. Am J Orthod Dentofacial Orthop 2010; 138:140 e1-140 e11.
88. Roginsky VV, Ivanov AL, Ovtchinninikov IA, Khonsari RH. Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. Int J Oral Maxillofac Surg 2009; 38:218-223.
89. Carvalho Silva E, Carvalho Silva GC, Vieira TC. Cherubism: clinicoradiographic features, treatment, and long-term follow-up of 8 cases. J Oral Maxillofac Surg 2007; 65:517-522. (Pubitemid 46329233)
90. Ueki Y, Tiziani V, Santanna C, et al. Mutations in the gene encoding c-Ablbinding protein SH3BP2 cause cherubism. Nat Genet 2001; 28:125-126. (Pubitemid 32538054)
91. Ueki Y, Lin CY, Senoo M, et al. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 'cherubism' mice. Cell 2007; 128:71-83. (Pubitemid 46048888)
92. Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med 2009; 360:2426-2437.
93. Reddy S, Jia S, Geoffrey R, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 2009; 360:2438-2444.