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SAPHO syndrome

Orpha number ORPHA793
Synonym(s) Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
Prevalence Unknown
Inheritance Not applicable
Multigenic/multifactorial
Age of onset Childhood
Adult
Adolescent
ICD-10
  • M86.3
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA
  • 10051316

Summary

SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.

Although its incidence and prevalence are probably underestimated, SAPHO syndrome is considered to be a rare disorder.

The age of onset ranges from childhood to late adulthood, with a median age between 30 and 40 years. SAPHO syndrome encompasses a wide spectrum of anomalies characterized by variable combinations of osteoarticular and cutaneous manifestations of varying degrees of severity. The onset of bone and joint pain, stiffness and swelling is most often insidious. In adults, inflammation occurs mainly in the anterior chest wall but also in the spine, less frequently in the mandible and the iliac bones ; in children it shows a comparable distribution as chronic non bacterial osteomyelitis (CNO/CRMO; see this term) (e.g. long bones, clavicle, spine). When synovitis occurs, it manifests most of the times in the sacro-iliac joint, hips or knees, or the sternoclavicular joints. Depending on severity of symptoms, a limited range of motion may be observed. Dermatological involvement includes severe acne, palmoplantar pustulosis, and pustular psoriasis (see these terms). Skin manifestations often begin 1-2 years before osseous changes but may appear simultaneously or more than 20 years later. Patients may also suffer from abdominal pain, diarrhea, anal fissures or abscesses, suggesting the possible association with an inflammatory bowel disease (IBD). Most authors regard CNO/CRMO as the pediatric form of SAPHO syndrome. In fact, the frequent occurrence of dermatological disorders or IBD pleads for the inclusion of these two entities in the same spectrum.

The etiology is unknown. SAPHO syndrome seems to have a multifactorial origin with genetic, environmental, immunologic, and infectious components. Slow-growing bacteria, such as Propionibacterium acnes, could act as a triggering factor.

Diagnosis, suspected upon clinical examination, must be confirmed with imaging procedures (X-rays, CT, MRI) showing a combination of osteolysis and osteosclerosis with secondary hyperostosis, bone marrow edema, endosteal-periosteal inflammation, perifocal myositis, and adjacent arthritis. Bone biopsy often reveals an infiltrate of neutrophils in early stages, progressively replaced by mononuclear cells and associated with sclerosis in later stages. A bacteriological study is sometimes positive for Propionibacterium acnes. Synovial fluid culture is usually negative.

Differential diagnosis includes infectious osteomyelitis or arthritis, Langerhans cell histiocytosis, and bone tumors such as Ewing sarcoma, osteoblastoma (see these terms), and osteoid osteoma.

Most cases are sporadic. Some familial cases have been reported.

Treatment is mainly symptomatic and is based on non-steroidal anti-inflammatory drugs, sometimes replaced by corticosteroids (e.g. prednisone). In resistant cases, disease-modifying antirheumatic drugs (e.g. methotrexate) can also be used. Intravenous biphosphonates (pamidronate, zoledronate) can alleviate bone pain. More recently, azithromycin or TNF-inhibitors showed encouraging results in controlling both osteoarticular and cutaneous manifestations. Acne may be treated with systemic antibiotics, like doxycycline. Palmoplantar pustulosis or pustular psoriasis usually responds well to either topic corticosteroids or PUVA therapy. Physiotherapy is recommended.

The disease usually has a chronic evolution, with alternating periods of remission and relapse, sometimes with the appearance of new osteosclerotic lesions. Spontaneous resolution can occur. Complications include impairment of bone and joint function, vascular compression, chronic pain syndrome, and progression towards classical spondyloarthritis.

Expert reviewer(s)

  • Pr Hermann GIRSCHICK
  • Dr Gilles HAYEM

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Detailed information

Review article
  • DE (2006,pdf)
Article for general public
  • FR (2007,pdf)
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