Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment

Abstract

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare disease which is often misdiagnosed and under-recognized, because of its peculiar and heterogeneous clinical presentation. Its main features consist of cutaneous and osteoarticular manifestations, the latter affecting more often the anterior chest wall and having typical radiologic findings. There are no validated diagnostic criteria for SAPHO and no guidelines for treatment, due mainly to its rarity; as a consequence, therapy is empirical and aimed to control pain and modifying inflammatory process. To date, the use of anti-TNF agents has been proved to be a valid alternative for patients unresponsive to conventional treatments, such as NSAIDs, corticosteroids, DMARDs and biphosphonates. The clinical heterogeneity of the disease, possibly due to differences in pathogenic mechanism of different manifestations, is challenging for both diagnosis and treatment, which should aim to control both skin and bone involvement in different clinical subsets. Here, we summarize the current status of knowledge about the SAPHO syndrome and present two cases of patients with very different disease manifestations, suggesting the need for personalized treatment.

Oral care of a patient with a SAPHO syndrome and a nickel allergy

“…A possible association with HLA‐B27 was initially suspected (as in spondylarthrosis) but recent studies have dismissed this hypothesis given that only a minority of patients present the antigen. Thus SAPHO syndrome may have a genetic or immune origin or occur after a Propionibacterium Acnes infection . An antibiotic treatment targeting this bacterium has already shown good results on patients’ health but disease progression starts again when the treatment is stopped and not all the patients respond well to the antibiotic .…”

“…Thus SAPHO syndrome may have a genetic or immune origin or occur after a Propionibacterium Acnes infection. 9 An antibiotic treatment targeting this bacterium has already shown good results on patients' health 1,8 but disease progression starts again when the treatment is stopped and not all the patients respond well to the antibiotic. 1 Thus, the etiopathogenesis of SAPHO syndrome may be multifactorial and not solely regarded as an infectious process.…”

“…Peripheral arthritis and synovitis are also noted in a third of patients and, in others, cutaneous reactions can resemble. It is often noted that skin features occur before osseous ones but there are strong variations among patients and skin manifestations can also appear later in the evolution of the syndrome . Back pain and anterior chest wall (sternum, clavicle, sternocostoclavicular) involvement are typical early presentations and considered main diagnostic criteria and distinguished from other types of pathologies (osteitis, spondyloarthritis, or osteoslerotic metastases of breast cancers) .…”

“…It is often noted that skin features occur before osseous ones but there are strong variations among patients and skin manifestations can also appear later in the evolution of the syndrome. 9 Back pain and anterior chest wall (sternum, clavicle, sternocostoclavicular) involvement 5,8,10 are typical early presentations 1 and considered main diagnostic criteria and distinguished from other types of pathologies (osteitis, spondyloarthritis, or © 2019 Special Care Dentistry Association and Wiley Periodicals, Inc. osteoslerotic metastases of breast cancers). [9][10][11] Differential diagnosis is complicated by the multiplicity of symptoms and the strong variations in their occurrence.…”

“…9 Back pain and anterior chest wall (sternum, clavicle, sternocostoclavicular) involvement 5,8,10 are typical early presentations 1 and considered main diagnostic criteria and distinguished from other types of pathologies (osteitis, spondyloarthritis, or © 2019 Special Care Dentistry Association and Wiley Periodicals, Inc. osteoslerotic metastases of breast cancers). [9][10][11] Differential diagnosis is complicated by the multiplicity of symptoms and the strong variations in their occurrence. 1,8,12 All of these symptoms of chronic intense pain can affect the patient's quality of life 13 and are associated with a 7.5% risk of depressive episodes.…”