Rheumatology and Orthopedics· Topic 17.3 Spondyloarthropathies· 17.3.5

SAPHO syndrome

SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) is a rare, often-overlooked member of the spondyloarthropathy spectrum defined by sterile inflammatory bone disease, classically anterior chest wall hyperostosis, occurring together with severe acne or palmoplantar pustulosis. It is a clinical diagnosis supported by the technetium bone scan's characteristic bull's head uptake pattern, with a sterile, culture-negative bone biopsy the key step that excludes its most important mimic, infectious osteomyelitis.

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What this article covers

  • Overview

    A bone-skin syndrome named for its own acronym: SAPHO stands for Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis, describing aseptic neutrophilic skin disease occurring with aseptic (sterile) osteoarticular disease.

  • Epidemiology

    Bimodal age distribution: SAPHO affects children (overlapping with chronic recurrent multifocal osteomyelitis, its pediatric-onset counterpart, where osteitis predominates without prominent skin disease) and young to middle-aged adults.

  • Risk factors

    Cigarette smoking: the strongest modifiable association, acting through its link to palmoplantar pustulosis.

  • Pathophysiology

    Sterile, not infectious, bone inflammation: the process behaves as an autoinflammatory bone-skin disorder with dysregulated innate immune/cytokine signaling rather than true infection, alongside…

  • Clinical features

    Anterior chest wall pain, the hallmark and most common presentation: insidious or subacute pain, tenderness, and sometimes swelling over the sternoclavicular, sternocostal, or manubriosternal joints…

  • Differential diagnosis

    Osteomyelitis: the most dangerous mimic, always excluded first, producing the same sclerotic, hyperostotic bone appearance on radiograph and bone scan; fever and leukocytosis are inconsistent (often…

  • Diagnosis

    How the diagnosis is established: SAPHO is a clinical diagnosis, made by recognizing skin disease (severe acne or palmoplantar pustulosis, or a related follicular occlusion/pustular disorder)…

  • Management

    First, exclude and treat infection or malignancy if identified: a positive biopsy culture or true sepsis is treated as osteomyelitis with organism-directed antibiotics for at least 6 weeks, not…

  • Complications

    Missed osteomyelitis: attributing a positive-culture infection to SAPHO and withholding antibiotics is the most serious error, given the identical imaging appearance.

  • Prognosis

    A chronic, relapsing-remitting course: SAPHO typically follows years of exacerbations and remissions rather than a single self-limited illness; skin and bone activity do not always flare together.

  • Prevention

    Smoking cessation: offer pharmacotherapy at every visit, since smoking is strongly linked to palmoplantar pustulosis flares; varenicline 0.5 mg PO daily for days 1-3, then 0.5 mg PO twice daily for…

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