Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO): An Interesting Clinical Syndrome

Abstract

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare disorder that classically involves the musculoskeletal system, i.e. bone, joint and skin. The exact pathogenesis of this syndrome is unknown. However, autoimmunity, infections, immune malfunction and genetic factors are attributed to its pathophysiology. Bone and joint involvements are the hallmark of SAPHO syndrome and not necessarily require cutaneous involvement at the time of diagnosis. X-ray of the affected joints could show osteitis with sclerosis. Anterior chest wall involvement particularly ''bullhead appearance'' seen on bone scan is a striking feature of the syndrome. Erythrocyte sedimentation rate (ESR) is usually elevated amongst the majority of patients. Diagnosis of SAPHO is always challenging and often delayed because of a multitude of symptoms. The mainstay of treatment is control of pain and inflammation with both non-steroidal anti-inflammatory drugs (NSAIDs) and rescue courses of systemic steroids. If failed to control symptoms with first-line agents and in those with severe disease, disease-modifying anti-inflammatory drugs (DMARDs) may be needed eventually. Despite a chronic inflammatory condition, it remains stable in the majority of cases. Here in this case report, we reiterate the importance of early recognition, timely diagnosis and prompt treatment initiation.

68Ga-DOTA-FAPI-04 PET/CT Imaging in a Case of SAPHO Syndrome

“…The difficulty in recognizing it is due to the wide diversity of signs and symptoms 3,4 . Bone scintigraphy is an important examination method, but only a small number of patients have the typical “bull’s head” sign, which brings challenges to the diagnosis 5–8 . 68 Ga-DOTA-FAPI-04 is a novel PET agent that has been shown to be promising for imaging tumors 9,10 .…”

New insights on multigenic autoinflammatory diseases

“…However, it is believed to be related to genetic factors, infections, and immune dysregulation. 157 As in Schnitzler's syndrome and AOSD, overproduction of IL-1β was also reported in SAPHO syndrome. 158 Studies have shown dysregulation of cytokines, including IL-1β, IL-8, IL-17, IL-18, and TNF-α, to be potentially involved in the pathogenesis of SAPHO.…”

“…Conventional treatments for SAPHO include NSAIDs, DMARDs, glucocorticoids or corticosteroids, bisphosphonates and antibiotics. 157 , 167 , 179 NSAIDs, DMARDs, glucocorticoids or corticosteroid, bisphosphonates and antibiotics have also been used as conventional treatments for CRMO/CNO. 180 – 182 Pamidronate, a bisphosphonate, has shown efficacy on osteoarticular manifestations of SAPHO, but did not improve cutaneous lesions.…”

“… 180 – 182 Pamidronate, a bisphosphonate, has shown efficacy on osteoarticular manifestations of SAPHO, but did not improve cutaneous lesions. 157 , 183 Gil et al 184 described a case in which an adult patient with SAPHO syndrome who developed palmoplantar pustulosis and sternoclavicular osteitis received treatment with bisphosphonate, systemic corticosteroid, and cyclosporine which resulted in complete resolution of the articular and dermatologic manifestations without any side effects. Bisphosphonate has shown a favorable treatment response in pediatric SAPHO syndrome.…”

Unusual cause of inflammatory backache: SAPHO syndrome

“…9,10 Due to the lack of treatment data as well as the variations in clinical manifestations, there is no treatment modality that has been determined to be the best for patients suffering from SAPHO syndrome. 11,12 We report a case of the disease with typical clinical findings. We report this case, citing the rarity of this uncommon entity.…”