SAPHO Syndrome

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Key points

  • SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis.

  • As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult.

  • Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome.

  • The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors.

  • Treatment is

Epidemiology

SAPHO is a rare disorder that affects predominantly children and adults. It is not common in individuals older than 60 years. The high variability in the clinical and imaging presentation depends on the stage of the lesions and the imaging method.3, 4, 5, 6

There is no predilection for gender, except for the male predominance in patients with severe acne. The estimated prevalence is 1 in 10,000 and the largest series are European.5, 7, 8 There are also descriptions from China9 and Australia.10

Clinical picture

It is important for the rheumatologist, dermatologist, and clinician to understand the distinct signs and symptoms that constitute the core manifestations of the SAPHO syndrome, as they are predominantly nonspecific and overlap with many other diseases.

Imaging

There is a great variability in imaging, which depends on the stage of the lesion and the imaging method. Special attention should be given to examination of the spine, which can facilitate an early diagnosis and prevent inadequate biopsies and unnecessary surgery.15, 24, 25, 26

Diagnosis

The frequent atypical or incomplete presentation, and the clinical mimicry with other diseases such as osteomyelitis, can delay the diagnosis of SAPHO syndrome. Unfortunately, there are no validated criteria for the diagnosis of SAPHO syndrome, and most patients do not fulfill the diagnosis of complete SAPHO. In 1988, Benhamou and colleagues2 proposed a group of inclusion and exclusion criteria (Box 1) that are still used by many physicians. In 2003, Khan proposed new classification criteria

Differential diagnosis

The differential diagnosis among these different syndromes will help to avoid inappropriate diagnostic procedures and treatment.3 Briefly discussed here are the main syndromes that are considered important in the differential diagnosis of SAPHO syndrome (Box 3).

Synovitis. The peripheral involvement in the patients with the diagnosis of SAPHO syndrome and related diseases is completely nonspecific.

Acne. The association of the characteristic acne conglobata or acne fulminans with arthritis has

Treatment

As SAPHO syndrome is a rare disease, there are no placebo-controlled randomized trials analyzing its treatment. All the published experience regarding the treatment of SAPHO syndrome derives from case reports and a few series of patients. Among the drugs that can be used in the treatment of SAPHO syndrome are nonsteroidal anti-inflammatory drugs (NSAIDs), analgesics, oral and intra-articular corticosteroids, antibiotics, bisphosphonates, and biologics (Box 4).6, 82

As the initial osteoarticular

Summary

SAPHO syndrome is a chronic disease of unknown origin characterized by bone, joint, and skin manifestations, which probably represents a chronic “reactive” osteitis that develops according to a sequence involving an initial infectious phase with P acnes, followed by an immunologic and autoimmune phase with strong humoral and cellular proinflammatory responses under the influence of genetic factors, although P acnes is not often found in bone lesions. It may be underrecognized, as skin

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      Citation Excerpt :

      See the previous section on acne vulgaris and pregnancy.226-229 The SAPHO syndrome refers to a group of diseases involving musculoskeletal and dermatological features: Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis.289,320-328 The SAPHO syndrome was identified in 1987 and understanding of its pathogenesis continues to emerge based in infectious, immunologic and genetic etiologies.320,321,324

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    Funding Sources: S. Carneiro: None; P.D. Sampaio-Barros: Federico Foundation.

    Conflict of Interest: S. Carneiro: Consultant for MSD; P.D. Sampaio-Barros: Consultant for Abbott, Janssen, MSD, and Pfizer.

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