Chronic recurrent multifocal osteomyelitis - A concise review and genetic update
ABSTRACT Chronic recurrent multifocal osteomyelitis is an autoinflammatory disorder characterized by bone pain and fever, a course of exacerbations and remissions, and a frequent association with other inflammatory conditions. Because its etiology is largely unknown, the diagnosis is still based on clinical criteria; treatment is empiric and not always successful. The diagnosis is supported by the presence of osteolytic lesions with surrounding sclerosis apparent on radiographs, and silent asymptomatic lesions frequently appear on nuclear scans. The histologic findings in bone biopsies are nonspecific, showing inflammatory changes with granulocytic infiltration. Several observations suggest the contribution of genetic factors to the etiology of chronic recurrent multifocal osteomyelitis. Indeed, mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated. We emphasize the need to validate diagnostic clinical criteria and develop new pathogenesis-based targeted therapy.
SourceAvailable from: Magda Carneiro-SampaioJornal de Pediatria 01/2010; 86(5):353-366. DOI:10.1590/S0021-75572010000500003 · 0.94 Impact Factor
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ABSTRACT: A complex web of dynamic relationships between innate and adaptive immunity is now evident for many autoinflammatory and autoimmune disorders, the first deriving from abnormal activation of innate immune system without any conventional danger triggers and the latter from self-/non-self-discrimination loss of tolerance, and systemic inflammation. Due to clinical and pathophysiologic similarities giving a crucial role to the multifunctional cytokine interleukin-1, the concept of autoinflammation has been expanded to include nonhereditary collagen-like diseases, idiopathic inflammatory diseases, and metabolic diseases. As more patients are reported to have clinical features of autoinflammation and autoimmunity, the boundary between these two pathologic ends is becoming blurred. An overview of monogenic autoinflammatory disorders, PFAPA syndrome, rheumatoid arthritis, type 2 diabetes mellitus, uveitis, pericarditis, Behçet’s disease, gout, Sjögren’s syndrome, interstitial lung diseases, and Still’s disease is presented to highlight the fundamental points that interleukin-1 displays in the cryptic interplay between innate and adaptive immune systems.Mediators of Inflammation 01/2015; 2015:1-21. DOI:10.1155/2015/194864 · 2.42 Impact Factor
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ABSTRACT: Background : Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory condition. The lesions are reported to present most frequently in the long bones. This study aimed to review the presenting features of CRMO in a cohort of children diagnosed as having CRMO and to compare the level of agreement between the clinical and published diagnostic criteria. Methods : A case notes review was undertaken of patients with a clinical diagnosis of CRMO. Patients were younger than 16 years at the time of diagnosis. Features were identified in each patient that agreed or disagreed with the published diagnostic criteria. The location of bone lesions in the lower limb at onset and disease progression was recorded. Results : A total of 37 patients were included. There was a high prevalence in white individuals. Agreement with the diagnostic criteria of Jansson et al and El-Shanti and Ferguson was poor, with levels of agreement of 40.5% and 43%, respectively, and low kappa scores (κ = 0.07 and 0.09, respectively). The lower limb was affected in 49% of patients at onset and in 72% overall. Conclusions : This study presents one of the largest published cohorts of pediatric patients with CRMO and also presents racial/ethnic group data that have not previously been reported in other studies. Despite being a condition considered to affect the metaphysis of long bones, the ankle area and foot bones were also frequently affected. The agreement between the clinical diagnosis and the published diagnostic criteria was weak.Journal of the American Podiatric Medical Association 11/2014; 104(6):583-7. DOI:10.7547/8750-7315-104.6.583 · 0.77 Impact Factor