Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.
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.
El-Shanti
Hatem I
HI
Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. hatem-el-shanti@uiowa.edu
Ferguson
Polly J
PJ
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D000818:Animals; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002908:Chronic Disease; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D010015:Osteolysis, Essential / Q000000981:diagnostic imaging / Q000473:pathology; D010019:Osteomyelitis / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D011859:Radiography; D011877:Radionuclide Imaging; D012008:Recurrence
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C502575:LPIN2 protein, human; D009687:Nuclear Proteins; C486384:PSTPIP2 protein, human