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Chronic multifocal osteomyelitis(CMO; CRMO3)

MedGen UID:
140822
•Concept ID:
C0410422
•
Disease or Syndrome
Synonym: Chronic recurrent multifocal osteomyelitis
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Related genes: LPIN2, IL1RN, IL1R1
 
Monarch Initiative: MONDO:0009813
OMIM®: 147810; 259680
OMIM® Phenotypic series: PS609628
Orphanet: ORPHA324964

Definition

Chronic recurrent multifocal osteomyelitis-3 (CRMO3) is an autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. The disorder results from constitutive activation of the IL1-mediated inflammatory pathway due to loss of IL1 receptor sensitivity to its antagonist IL1RN (147679). et al. (2023) suggested the term 'Loss of IL1R1 Sensitivity to IL1RA (IL1RN)' or 'LIRSA' as a designation for this disorder. For a discussion of genetic heterogeneity of CRMO, see 609628. [from OMIM]

Clinical features

From HPO
Bone pain
MedGen UID:
57489
•Concept ID:
C0151825
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
See: Feature record | Search on this feature
Osteomyelitis
MedGen UID:
10497
•Concept ID:
C0029443
•
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
See: Feature record | Search on this feature
Palmoplantar pustulosis
MedGen UID:
45290
•Concept ID:
C0030246
•
Disease or Syndrome
A chronic, relapsing, pustular eruption that is localized to the palms and soles.
See: Feature record | Search on this feature
Fever
MedGen UID:
5169
•Concept ID:
C0015967
•
Sign or Symptom
Body temperature elevated above the normal range.
See: Feature record | Search on this feature
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
•Concept ID:
C0151632
•
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Chronic multifocal osteomyelitis in Orphanet.

Professional guidelines

PubMed

Chronic Nonbacterial Osteomyelitis: Pathophysiological Concepts and Current Treatment Strategies.
Hofmann SR, Schnabel A, Rösen-Wolff A, Morbach H, Girschick HJ, Hedrich CM
J Rheumatol 2016 Nov;43(11):1956-1964. Epub 2016 Sep 1 doi: 10.3899/jrheum.160256. PMID: 27585682
The management of chronic osteomyelitis.
Cole WG
Clin Orthop Relat Res 1991 Mar;(264):84-9. PMID: 1997255

Recent clinical studies

Etiology

Analysis of the fecal and oral microbiota in chronic recurrent multifocal osteomyelitis.
Rausch P, Hartmann M, Baines JF, von Bismarck P
Arthritis Res Ther 2022 Feb 22;24(1):54. doi: 10.1186/s13075-021-02711-8. PMID: 35193655Free PMC Article
New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice.
Ferguson PJ, Laxer RM
Semin Immunopathol 2015 Jul;37(4):407-12. Epub 2015 Apr 17 doi: 10.1007/s00281-015-0488-2. PMID: 25894861
Magnetic resonance imaging of osteoarticular infections in children.
Marin C, Sanchez-Alegre ML, Gallego C, Ruiz Y, Collado E, Garcia JA, Mardones GG
Curr Probl Diagn Radiol 2004 Mar-Apr;33(2):43-59. doi: 10.1016/j.cpradiol.2003.09.003. PMID: 14997162
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.
Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A
Eur J Hum Genet 2002 Mar;10(3):217-21. doi: 10.1038/sj.ejhg.5200789. PMID: 11973628
The management of chronic osteomyelitis.
Cole WG
Clin Orthop Relat Res 1991 Mar;(264):84-9. PMID: 1997255

Diagnosis

Analysis of the fecal and oral microbiota in chronic recurrent multifocal osteomyelitis.
Rausch P, Hartmann M, Baines JF, von Bismarck P
Arthritis Res Ther 2022 Feb 22;24(1):54. doi: 10.1186/s13075-021-02711-8. PMID: 35193655Free PMC Article
Chronic Recurrent Multifocal Osteomyelitis Involving the Mandible - A Rare Case Report.
Alamoudi A, Selvam NP, Kashtwari D, Ruprecht A, Hansen M
J Clin Pediatr Dent 2021 Oct 1;45(4):273-277. doi: 10.17796/1053-4625-45.4.10. PMID: 34534306
Chronic multifocal osteomyelitis: is infectious causation a moot point?
Cimolai N
J Infect Public Health 2011 Sep;4(4):157-68. doi: 10.1016/j.jiph.2011.05.001. PMID: 22000842
Chronic multifocal osteomyelitis.
Carr AJ, Cole WG, Roberton DM, Chow CW
J Bone Joint Surg Br 1993 Jul;75(4):582-91. doi: 10.1302/0301-620X.75B4.8331113. PMID: 8331113
The management of chronic osteomyelitis.
Cole WG
Clin Orthop Relat Res 1991 Mar;(264):84-9. PMID: 1997255

Therapy

Chronic Recurrent Multifocal Osteomyelitis Involving the Mandible - A Rare Case Report.
Alamoudi A, Selvam NP, Kashtwari D, Ruprecht A, Hansen M
J Clin Pediatr Dent 2021 Oct 1;45(4):273-277. doi: 10.17796/1053-4625-45.4.10. PMID: 34534306
Mycobacterium szulgai chronic multifocal osteomyelitis in an adolescent with inherited STAT1 deficiency.
Shamriz O, Engelhard D, Rajs AP, Kaidar-Shwartz H, Casanova JL, Averbuch D
Pediatr Infect Dis J 2013 Dec;32(12):1345-7. doi: 10.1097/01.inf.0000437067.43859.4c. PMID: 24569307

Prognosis

Chronic Recurrent Multifocal Osteomyelitis Involving the Mandible - A Rare Case Report.
Alamoudi A, Selvam NP, Kashtwari D, Ruprecht A, Hansen M
J Clin Pediatr Dent 2021 Oct 1;45(4):273-277. doi: 10.17796/1053-4625-45.4.10. PMID: 34534306
Chronic multifocal osteomyelitis: is infectious causation a moot point?
Cimolai N
J Infect Public Health 2011 Sep;4(4):157-68. doi: 10.1016/j.jiph.2011.05.001. PMID: 22000842
Case report 834: Chronic sclerosing osteomyelitis of the mandible with long bone periostitis.
Stewart A, Carneiro R, Pollock L, Shaw D
Skeletal Radiol 1994 Apr;23(3):225-7. doi: 10.1007/BF00197468. PMID: 8016677
Chronic multifocal osteomyelitis.
Carr AJ, Cole WG, Roberton DM, Chow CW
J Bone Joint Surg Br 1993 Jul;75(4):582-91. doi: 10.1302/0301-620X.75B4.8331113. PMID: 8331113

Clinical prediction guides

Analysis of the fecal and oral microbiota in chronic recurrent multifocal osteomyelitis.
Rausch P, Hartmann M, Baines JF, von Bismarck P
Arthritis Res Ther 2022 Feb 22;24(1):54. doi: 10.1186/s13075-021-02711-8. PMID: 35193655Free PMC Article

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