Skip to main content
Top
Published in: Pediatric Rheumatology 1/2013

Open Access 01-12-2013 | Review

Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)

Authors: Christian M Hedrich, Sigrun R Hofmann, Jessica Pablik, Henner Morbach, Hermann J Girschick

Published in: Pediatric Rheumatology | Issue 1/2013

Login to get access

Abstract

Sterile bone inflammation is the hallmark of autoinflammatory bone disorders, including chronic nonbacterial osteomyelitis (CNO) with its most severe form chronic recurrent multifocal osteomyelitis (CRMO). Autoinflammatory osteopathies are the result of a dysregulated innate immune system, resulting in immune cell infiltration of the bone and subsequent osteoclast differentiation and activation. Interestingly, autoinflammatory bone disorders are associated with inflammation of the skin and/or the intestine. In several monogenic autoinflammatory bone disorders mutations in disease-causing genes have been reported. However, regardless of recent developments, the molecular pathogenesis of CNO/CRMO remains unclear.
Here, we discuss the clinical presentation and molecular pathophysiology of human autoinflammatory osteopathies and animal models with special focus on CNO/CRMO. Treatment options in monogenic autoinflammatory bone disorders and CRMO will be illustrated.
Appendix
Available only for authorised users
Literature
1.
go back to reference de Almeida J, Goldbach-Mansky R: Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013, 147: 155-174. 10.1016/j.clim.2013.03.016.CrossRef de Almeida J, Goldbach-Mansky R: Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013, 147: 155-174. 10.1016/j.clim.2013.03.016.CrossRef
2.
go back to reference Hofmann SR, Roesen-Wolff A, Hahn G, Hedrich CM: Update: cytokine dysregulation in chronic nonbacterial osteomyelitis (CNO). Int J Rheumatol. 2012, 2012: 310206-PubMedCentralCrossRefPubMed Hofmann SR, Roesen-Wolff A, Hahn G, Hedrich CM: Update: cytokine dysregulation in chronic nonbacterial osteomyelitis (CNO). Int J Rheumatol. 2012, 2012: 310206-PubMedCentralCrossRefPubMed
3.
go back to reference Morbach H, Hedrich CM, Beer M, Girschick HJ: Autoinflammatory bone disorders. Clin Immunol. 2013, 147: 185-196. 10.1016/j.clim.2012.12.012.CrossRefPubMed Morbach H, Hedrich CM, Beer M, Girschick HJ: Autoinflammatory bone disorders. Clin Immunol. 2013, 147: 185-196. 10.1016/j.clim.2012.12.012.CrossRefPubMed
4.
go back to reference Sharma M, Ferguson PJ: Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. Curr Opin Rheumatol. 2013, 25: 658-664. 10.1097/BOR.0b013e328363eb08.CrossRefPubMed Sharma M, Ferguson PJ: Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. Curr Opin Rheumatol. 2013, 25: 658-664. 10.1097/BOR.0b013e328363eb08.CrossRefPubMed
5.
go back to reference Ferguson PJ, Sandu M: Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. Curr Rheumatol Rep. 2012, 14: 130-141. 10.1007/s11926-012-0239-5.PubMedCentralCrossRefPubMed Ferguson PJ, Sandu M: Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. Curr Rheumatol Rep. 2012, 14: 130-141. 10.1007/s11926-012-0239-5.PubMedCentralCrossRefPubMed
6.
go back to reference Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009, 360: 2426-2437. 10.1056/NEJMoa0807865.PubMedCentralCrossRefPubMed Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009, 360: 2426-2437. 10.1056/NEJMoa0807865.PubMedCentralCrossRefPubMed
7.
go back to reference Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A: 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. 10.1136/jmg.2005.030759.PubMedCentralCrossRefPubMed Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A: 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. 10.1136/jmg.2005.030759.PubMedCentralCrossRefPubMed
8.
go back to reference Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA: Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003, 100: 13501-13506. 10.1073/pnas.2135380100.PubMedCentralCrossRefPubMed Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA: Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003, 100: 13501-13506. 10.1073/pnas.2135380100.PubMedCentralCrossRefPubMed
9.
go back to reference Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT: A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997, 72: 611-615.CrossRefPubMed Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT: A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997, 72: 611-615.CrossRefPubMed
10.
go back to reference Smith EJ, Allantaz F, Bennett L, Zhang D, Gao X, Wood G: Clinical, molecular, and genetic characteristics of PAPA syndrome: a review. Curr Genomics. 2010, 11: 519-527. 10.2174/138920210793175921.PubMedCentralCrossRefPubMed Smith EJ, Allantaz F, Bennett L, Zhang D, Gao X, Wood G: Clinical, molecular, and genetic characteristics of PAPA syndrome: a review. Curr Genomics. 2010, 11: 519-527. 10.2174/138920210793175921.PubMedCentralCrossRefPubMed
11.
go back to reference Waite AL, Schaner P, Richards N, Balci-Peynircioglu B, Masters SL, Brydges SD: Pyrin modulates the intracellular distribution of PSTPIP1. PLoS One. 2009, 4: e6147-10.1371/journal.pone.0006147.PubMedCentralCrossRefPubMed Waite AL, Schaner P, Richards N, Balci-Peynircioglu B, Masters SL, Brydges SD: Pyrin modulates the intracellular distribution of PSTPIP1. PLoS One. 2009, 4: e6147-10.1371/journal.pone.0006147.PubMedCentralCrossRefPubMed
12.
go back to reference Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002, 11: 961-969. 10.1093/hmg/11.8.961.CrossRefPubMed Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002, 11: 961-969. 10.1093/hmg/11.8.961.CrossRefPubMed
13.
go back to reference Moll M, Kuemmerle-Deschner JB: Inflammasome and cytokine blocking strategies in autoinflammatory disorders. Clin Immunol. 2013, 147: 242-275. 10.1016/j.clim.2013.04.008.CrossRefPubMed Moll M, Kuemmerle-Deschner JB: Inflammasome and cytokine blocking strategies in autoinflammatory disorders. Clin Immunol. 2013, 147: 242-275. 10.1016/j.clim.2013.04.008.CrossRefPubMed
14.
go back to reference Stern SM, Ferguson PJ: Autoinflammatory bone diseases. Rheum Dis Clin North Am. 2009, 360: 735-749. Stern SM, Ferguson PJ: Autoinflammatory bone diseases. Rheum Dis Clin North Am. 2009, 360: 735-749.
15.
go back to reference Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M: A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum. 2011, 63: 4007-4017. 10.1002/art.30588.PubMedCentralCrossRefPubMed Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M: A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum. 2011, 63: 4007-4017. 10.1002/art.30588.PubMedCentralCrossRefPubMed
16.
go back to reference El-Shanti H, Ferguson P: Majeed syndrome. GeneReviews™ [Internet]. Edited by: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. Seattle (WA): University of Washington, Seattle, 1993-2013. 2008 El-Shanti H, Ferguson P: Majeed syndrome. GeneReviews™ [Internet]. Edited by: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K. Seattle (WA): University of Washington, Seattle, 1993-2013. 2008
17.
go back to reference Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F: 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: 730-734. 10.1016/S0022-3476(89)80650-X.CrossRefPubMed Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F: 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: 730-734. 10.1016/S0022-3476(89)80650-X.CrossRefPubMed
18.
go back to reference Ferguson PJ, El-Shanti HI: Autoinflammatory bone disorders. Curr Opin Rheumatol. 2007, 19: 492-498. 10.1097/BOR.0b013e32825f5492.CrossRefPubMed Ferguson PJ, El-Shanti HI: Autoinflammatory bone disorders. Curr Opin Rheumatol. 2007, 19: 492-498. 10.1097/BOR.0b013e32825f5492.CrossRefPubMed
19.
go back to reference Donkor J, Zhang P, Wong S, O’Loughlin L, Dewald J, Kok BP: A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. J Biol Chem. 2009, 284: 29968-29978. 10.1074/jbc.M109.023663.PubMedCentralCrossRefPubMed Donkor J, Zhang P, Wong S, O’Loughlin L, Dewald J, Kok BP: A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. J Biol Chem. 2009, 284: 29968-29978. 10.1074/jbc.M109.023663.PubMedCentralCrossRefPubMed
21.
go back to reference Valdearcos M, Esquinas E, Meana C, Pena L, Gil-de-Gomez L, Balsinde J: Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. J Biol Chem. 2012, 287: 10894-10904. 10.1074/jbc.M112.342915.PubMedCentralCrossRefPubMed Valdearcos M, Esquinas E, Meana C, Pena L, Gil-de-Gomez L, Balsinde J: Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. J Biol Chem. 2012, 287: 10894-10904. 10.1074/jbc.M112.342915.PubMedCentralCrossRefPubMed
22.
go back to reference Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X: Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis. 2013, 72: 410-413. 10.1136/annrheumdis-2012-201818.PubMedCentralCrossRefPubMed Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X: Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis. 2013, 72: 410-413. 10.1136/annrheumdis-2012-201818.PubMedCentralCrossRefPubMed
23.
go back to reference Vittecoq O, Said LA, Michot C, Mejjad O, Thomine JM, Mitrofanoff P: Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term. Arthritis Rheum. 2000, 43: 109-119. 10.1002/1529-0131(200001)43:1<109::AID-ANR14>3.0.CO;2-3.CrossRefPubMed Vittecoq O, Said LA, Michot C, Mejjad O, Thomine JM, Mitrofanoff P: Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term. Arthritis Rheum. 2000, 43: 109-119. 10.1002/1529-0131(200001)43:1<109::AID-ANR14>3.0.CO;2-3.CrossRefPubMed
24.
go back to reference Hofmann SR, Schwarz T, Moller JC, Morbach H, Schnabel A, Rosen-Wolff A: Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression. Clin Immunol. 2011, 141: 317-327. 10.1016/j.clim.2011.08.012.CrossRefPubMed Hofmann SR, Schwarz T, Moller JC, Morbach H, Schnabel A, Rosen-Wolff A: Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression. Clin Immunol. 2011, 141: 317-327. 10.1016/j.clim.2011.08.012.CrossRefPubMed
25.
go back to reference Hofmann SR, Rosen-Wolff A, Tsokos GC, Hedrich CM: Biological properties and regulation of IL-10 related cytokines and their contribution to autoimmune disease and tissue injury. Clin Immunol. 2012, 143: 116-127. 10.1016/j.clim.2012.02.005.CrossRefPubMed Hofmann SR, Rosen-Wolff A, Tsokos GC, Hedrich CM: Biological properties and regulation of IL-10 related cytokines and their contribution to autoimmune disease and tissue injury. Clin Immunol. 2012, 143: 116-127. 10.1016/j.clim.2012.02.005.CrossRefPubMed
26.
go back to reference Hamel J, Paul D, Gahr M, Hedrich CM: Pilot study: possible association of IL10 promoter polymorphisms with CRMO. Rheumatol Int. 2012, 32: 555-556. 10.1007/s00296-010-1768-8.CrossRefPubMed Hamel J, Paul D, Gahr M, Hedrich CM: Pilot study: possible association of IL10 promoter polymorphisms with CRMO. Rheumatol Int. 2012, 32: 555-556. 10.1007/s00296-010-1768-8.CrossRefPubMed
27.
go back to reference Hofmann SR, Morbach H, Schwarz T, Rosen-Wolff A, Girschick HJ, Hedrich CM: Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression. Clin Immunol. 2012, 145: 69-76. 10.1016/j.clim.2012.07.012.CrossRefPubMed Hofmann SR, Morbach H, Schwarz T, Rosen-Wolff A, Girschick HJ, Hedrich CM: Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression. Clin Immunol. 2012, 145: 69-76. 10.1016/j.clim.2012.07.012.CrossRefPubMed
28.
29.
go back to reference Schilling F, Wagner AD: Azithromycin: an anti-inflammatory effect in chronic recurrent multifocal osteomyelitis? A preliminary report. Z Rheumatol. 2000, 59: 352-353. 10.1007/s003930070059.CrossRefPubMed Schilling F, Wagner AD: Azithromycin: an anti-inflammatory effect in chronic recurrent multifocal osteomyelitis? A preliminary report. Z Rheumatol. 2000, 59: 352-353. 10.1007/s003930070059.CrossRefPubMed
30.
go back to reference Grange PA, Raingeaud J, Calvez V, Dupin N: Nicotinamide inhibits Propionibacterium acnes-induced IL-8 production in keratinocytes through the NF-kappaB and MAPK pathways. J Dermatol Sci. 2009, 56: 106-112. 10.1016/j.jdermsci.2009.08.001.CrossRefPubMed Grange PA, Raingeaud J, Calvez V, Dupin N: Nicotinamide inhibits Propionibacterium acnes-induced IL-8 production in keratinocytes through the NF-kappaB and MAPK pathways. J Dermatol Sci. 2009, 56: 106-112. 10.1016/j.jdermsci.2009.08.001.CrossRefPubMed
31.
go back to reference Jugeau S, Tenaud I, Knol AC, Jarrousse V, Quereux G, Khammari A: Induction of toll-like receptors by Propionibacterium acnes. Br J Dermatol. 2005, 153: 1105-1113. 10.1111/j.1365-2133.2005.06933.x.CrossRefPubMed Jugeau S, Tenaud I, Knol AC, Jarrousse V, Quereux G, Khammari A: Induction of toll-like receptors by Propionibacterium acnes. Br J Dermatol. 2005, 153: 1105-1113. 10.1111/j.1365-2133.2005.06933.x.CrossRefPubMed
32.
go back to reference Cesar-Neto JB, Duarte PM, de Oliveira MC, Tambeli CH, Sallum EA, Nociti FH: Smoking modulates interleukin-6:interleukin-10 and RANKL:osteoprotegerin ratios in the periodontal tissues. J Periodontal Res. 2007, 42: 184-191. 10.1111/j.1600-0765.2006.00934.x.CrossRefPubMed Cesar-Neto JB, Duarte PM, de Oliveira MC, Tambeli CH, Sallum EA, Nociti FH: Smoking modulates interleukin-6:interleukin-10 and RANKL:osteoprotegerin ratios in the periodontal tissues. J Periodontal Res. 2007, 42: 184-191. 10.1111/j.1600-0765.2006.00934.x.CrossRefPubMed
33.
go back to reference Evans KE, Fox SW: Interleukin-10 inhibits osteoclastogenesis by reducing NFATc1 expression and preventing its translocation to the nucleus. BMC Cell Biol. 2007, 8: 4-10.1186/1471-2121-8-4.PubMedCentralCrossRefPubMed Evans KE, Fox SW: Interleukin-10 inhibits osteoclastogenesis by reducing NFATc1 expression and preventing its translocation to the nucleus. BMC Cell Biol. 2007, 8: 4-10.1186/1471-2121-8-4.PubMedCentralCrossRefPubMed
34.
go back to reference Nakashima T, Takayanagi H: Osteoimmunology: crosstalk between the immune and bone systems. J Clin Immunol. 2009, 29: 555-567. 10.1007/s10875-009-9316-6.CrossRefPubMed Nakashima T, Takayanagi H: Osteoimmunology: crosstalk between the immune and bone systems. J Clin Immunol. 2009, 29: 555-567. 10.1007/s10875-009-9316-6.CrossRefPubMed
35.
go back to reference Nakashima T, Takayanagi H: Osteoclasts and the immune system. J Bone Miner Metab. 2009, 27: 519-529. 10.1007/s00774-009-0089-z.CrossRefPubMed Nakashima T, Takayanagi H: Osteoclasts and the immune system. J Bone Miner Metab. 2009, 27: 519-529. 10.1007/s00774-009-0089-z.CrossRefPubMed
36.
go back to reference Takayanagi H: Osteoimmunology: shared mechanisms and crosstalk between the immune and bone systems. Nat Rev Immunol. 2007, 7: 292-304. 10.1038/nri2062.CrossRefPubMed Takayanagi H: Osteoimmunology: shared mechanisms and crosstalk between the immune and bone systems. Nat Rev Immunol. 2007, 7: 292-304. 10.1038/nri2062.CrossRefPubMed
37.
go back to reference Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T: Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet. 2002, 10: 217-221. 10.1038/sj.ejhg.5200789.CrossRefPubMed Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T: Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet. 2002, 10: 217-221. 10.1038/sj.ejhg.5200789.CrossRefPubMed
38.
go back to reference Beck C, Girschick HJ, Morbach H, Schwarz T, Yimam T, Frenkel J: Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence. Clin Exp Rheumatol. 2011, 29: 1040-1043.PubMed Beck C, Girschick HJ, Morbach H, Schwarz T, Yimam T, Frenkel J: Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence. Clin Exp Rheumatol. 2011, 29: 1040-1043.PubMed
39.
go back to reference Morbach H, Dick A, Beck C, Stenzel M, Muller-Hermelink HK, Raab P: Association of chronic non-bacterial osteomyelitis with Crohn’s disease but not with CARD15 gene variants. Rheumatol Int. 2010, 30: 617-621. 10.1007/s00296-009-1029-x.CrossRefPubMed Morbach H, Dick A, Beck C, Stenzel M, Muller-Hermelink HK, Raab P: Association of chronic non-bacterial osteomyelitis with Crohn’s disease but not with CARD15 gene variants. Rheumatol Int. 2010, 30: 617-621. 10.1007/s00296-009-1029-x.CrossRefPubMed
40.
go back to reference Tam LS, Chan PK, Ho SC, Yu MM, Yim SF, Cheung TH: Natural history of cervical papilloma virus infection in systemic lupus erythematosus - a prospective cohort study. J Rheumatol. 2010, 37: 330-340. 10.3899/jrheum.090644.CrossRefPubMed Tam LS, Chan PK, Ho SC, Yu MM, Yim SF, Cheung TH: Natural history of cervical papilloma virus infection in systemic lupus erythematosus - a prospective cohort study. J Rheumatol. 2010, 37: 330-340. 10.3899/jrheum.090644.CrossRefPubMed
41.
go back to reference Khanna G, Sato TS, Ferguson P: Imaging of chronic recurrent multifocal osteomyelitis. Radiographics. 2009, 29: 1159-1177. 10.1148/rg.294085244.CrossRefPubMed Khanna G, Sato TS, Ferguson P: Imaging of chronic recurrent multifocal osteomyelitis. Radiographics. 2009, 29: 1159-1177. 10.1148/rg.294085244.CrossRefPubMed
42.
go back to reference Neubauer H, Evangelista L, Morbach H, Girschick H, Prelog M, Kostler H: Diffusion-weighted MRI of bone marrow oedema, soft tissue oedema and synovitis in paediatric patients: feasibility and initial experience. Pediatr Rheumatol Online J. 2012, 10: 20-10.1186/1546-0096-10-20.PubMedCentralCrossRefPubMed Neubauer H, Evangelista L, Morbach H, Girschick H, Prelog M, Kostler H: Diffusion-weighted MRI of bone marrow oedema, soft tissue oedema and synovitis in paediatric patients: feasibility and initial experience. Pediatr Rheumatol Online J. 2012, 10: 20-10.1186/1546-0096-10-20.PubMedCentralCrossRefPubMed
43.
go back to reference Girschick HJ, Huppertz HI, Harmsen D, Krauspe R, Muller-Hermelink HK, Papadopoulos T: Chronic recurrent multifocal osteomyelitis in children: diagnostic value of histopathology and microbial testing. Hum Pathol. 1999, 30: 59-65. 10.1016/S0046-8177(99)90301-5.CrossRefPubMed Girschick HJ, Huppertz HI, Harmsen D, Krauspe R, Muller-Hermelink HK, Papadopoulos T: Chronic recurrent multifocal osteomyelitis in children: diagnostic value of histopathology and microbial testing. Hum Pathol. 1999, 30: 59-65. 10.1016/S0046-8177(99)90301-5.CrossRefPubMed
44.
go back to reference Beck C, Morbach H, Beer M, Stenzel M, Tappe D, Gattenlohner S: Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment. Arthritis Res Ther. 2010, 12: R74-10.1186/ar2992.PubMedCentralCrossRefPubMed Beck C, Morbach H, Beer M, Stenzel M, Tappe D, Gattenlohner S: Chronic nonbacterial osteomyelitis in childhood: prospective follow-up during the first year of anti-inflammatory treatment. Arthritis Res Ther. 2010, 12: R74-10.1186/ar2992.PubMedCentralCrossRefPubMed
45.
go back to reference Borzutzky A, Stern S, Reiff A, Zurakowski D, Steinberg EA, Dedeoglu F: Pediatric chronic nonbacterial osteomyelitis. Pediatrics. 2012, 130: e1190-e1197. 10.1542/peds.2011-3788.CrossRefPubMed Borzutzky A, Stern S, Reiff A, Zurakowski D, Steinberg EA, Dedeoglu F: Pediatric chronic nonbacterial osteomyelitis. Pediatrics. 2012, 130: e1190-e1197. 10.1542/peds.2011-3788.CrossRefPubMed
46.
go back to reference Twilt M, Laxer RM: Clinical care of children with sterile bone inflammation. Curr Opin Rheumatol. 2011, 23: 424-431. 10.1097/BOR.0b013e328349c363.CrossRefPubMed Twilt M, Laxer RM: Clinical care of children with sterile bone inflammation. Curr Opin Rheumatol. 2011, 23: 424-431. 10.1097/BOR.0b013e328349c363.CrossRefPubMed
47.
go back to reference Hedrich CM, Hahn G, Girschick HJ, Morbach H: A clinical and pathomechanistic profile of chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis and challenges facing the field. Expert Rev Clin Immunol. 2013, 9: 845-854. 10.1586/1744666X.2013.824670.CrossRefPubMed Hedrich CM, Hahn G, Girschick HJ, Morbach H: A clinical and pathomechanistic profile of chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis and challenges facing the field. Expert Rev Clin Immunol. 2013, 9: 845-854. 10.1586/1744666X.2013.824670.CrossRefPubMed
48.
go back to reference Girschick HJ, Zimmer C, Klaus G, Darge K, Dick A, Morbach H: Chronic recurrent multifocal osteomyelitis: what is it and how should it be treated?. Nat Clin Pract Rheumatol. 2007, 3: 733-738. 10.1038/ncprheum0653.CrossRefPubMed Girschick HJ, Zimmer C, Klaus G, Darge K, Dick A, Morbach H: Chronic recurrent multifocal osteomyelitis: what is it and how should it be treated?. Nat Clin Pract Rheumatol. 2007, 3: 733-738. 10.1038/ncprheum0653.CrossRefPubMed
49.
go back to reference Jansson A, Renner ED, Ramser J, Mayer A, Haban M, Meindl A: Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford). 2007, 46: 154-160. 10.1093/rheumatology/kel190.CrossRef Jansson A, Renner ED, Ramser J, Mayer A, Haban M, Meindl A: Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford). 2007, 46: 154-160. 10.1093/rheumatology/kel190.CrossRef
50.
go back to reference Hospach T, Langendoerfer M, von Kalle T, Maier J, Dannecker GE: Spinal involvement in chronic recurrent multifocal osteomyelitis (CRMO) in childhood and effect of pamidronate. Eur J Pediatr. 2010, 169: 1105-1111. 10.1007/s00431-010-1188-5.CrossRefPubMed Hospach T, Langendoerfer M, von Kalle T, Maier J, Dannecker GE: Spinal involvement in chronic recurrent multifocal osteomyelitis (CRMO) in childhood and effect of pamidronate. Eur J Pediatr. 2010, 169: 1105-1111. 10.1007/s00431-010-1188-5.CrossRefPubMed
51.
go back to reference Miettunen PM, Wei X, Kaura D, Reslan WA, Aguirre AN, Kellner JD: 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: 2-10.1186/1546-0096-7-2.PubMedCentralCrossRefPubMed Miettunen PM, Wei X, Kaura D, Reslan WA, Aguirre AN, Kellner JD: 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: 2-10.1186/1546-0096-7-2.PubMedCentralCrossRefPubMed
52.
go back to reference Morbach H, Stenzel M, Girschick HJ: Bisphosphonate treatment for patients with chronic nonbacterial osteomyelitis. Nat Clin Pract Rheumatol. 2008, 4: 570-571. 10.1038/ncprheum0908.CrossRefPubMed Morbach H, Stenzel M, Girschick HJ: Bisphosphonate treatment for patients with chronic nonbacterial osteomyelitis. Nat Clin Pract Rheumatol. 2008, 4: 570-571. 10.1038/ncprheum0908.CrossRefPubMed
53.
go back to reference Simm PJ, Allen RC, Zacharin MR: Bisphosphonate treatment in chronic recurrent multifocal osteomyelitis. J Pediatr. 2008, 152: 571-575. 10.1016/j.jpeds.2007.08.047.CrossRefPubMed Simm PJ, Allen RC, Zacharin MR: Bisphosphonate treatment in chronic recurrent multifocal osteomyelitis. J Pediatr. 2008, 152: 571-575. 10.1016/j.jpeds.2007.08.047.CrossRefPubMed
54.
go back to reference Chitu V, Nacu V, Charles JF, Henne WM, McMahon HT, Nandi S: PSTPIP2 deficiency in mice causes osteopenia and increased differentiation of multipotent myeloid precursors into osteoclasts. Blood. 2012, 120: 3126-3135. 10.1182/blood-2012-04-425595.PubMedCentralCrossRefPubMed Chitu V, Nacu V, Charles JF, Henne WM, McMahon HT, Nandi S: PSTPIP2 deficiency in mice causes osteopenia and increased differentiation of multipotent myeloid precursors into osteoclasts. Blood. 2012, 120: 3126-3135. 10.1182/blood-2012-04-425595.PubMedCentralCrossRefPubMed
55.
go back to reference Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L: Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood. 2006, 107: 3350-3358. 10.1182/blood-2005-09-3556.PubMedCentralCrossRefPubMed Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L: Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood. 2006, 107: 3350-3358. 10.1182/blood-2005-09-3556.PubMedCentralCrossRefPubMed
56.
go back to reference Safra N, Johnson EG, Lit L, Foreman O, Wolf ZT, Aguilar M: Clinical manifestations, response to treatment, and clinical outcome for Weimaraners with hypertrophic osteodystrophy: 53 cases (2009–2011). J Am Vet Med Assoc. 2013, 242: 1260-1266. 10.2460/javma.242.9.1260.PubMedCentralCrossRefPubMed Safra N, Johnson EG, Lit L, Foreman O, Wolf ZT, Aguilar M: Clinical manifestations, response to treatment, and clinical outcome for Weimaraners with hypertrophic osteodystrophy: 53 cases (2009–2011). J Am Vet Med Assoc. 2013, 242: 1260-1266. 10.2460/javma.242.9.1260.PubMedCentralCrossRefPubMed
57.
go back to reference Woodard JC: Canine hypertrophic osteodystrophy, a study of the spontaneous disease in littermates. Vet Pathol. 1982, 19: 337-354. 10.1177/030098588201900401.CrossRefPubMed Woodard JC: Canine hypertrophic osteodystrophy, a study of the spontaneous disease in littermates. Vet Pathol. 1982, 19: 337-354. 10.1177/030098588201900401.CrossRefPubMed
Metadata
Title
Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO)
Authors
Christian M Hedrich
Sigrun R Hofmann
Jessica Pablik
Henner Morbach
Hermann J Girschick
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-47

Other articles of this Issue 1/2013

Pediatric Rheumatology 1/2013 Go to the issue