Chronic recurrent multifocal osteomyelitis: A concise review and genetic update

Hatem I. El-Shanti, Polly J. Ferguson

    Research output: Contribution to journalReview article

    88 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)11-19
    Number of pages9
    JournalClinical Orthopaedics and Related Research
    Issue number462
    DOIs
    Publication statusPublished - Sep 2007

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    ASJC Scopus subject areas

    • Surgery
    • Orthopedics and Sports Medicine

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