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Autoinflammatory Bone Diseases.

Balkan Med J

January 2025

Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.

Autoinflammatory bone diseases (AIBDs) constitute a recently identified subset of autoinflammatory diseases. These conditions are characterized by an exaggerated inflammatory response in the bones without any apparent etiology. Inflammatory bone lesions associated with AIBDs exhibit chronic inflammation, are typically culture-negative, and do not exhibit discernible microorganisms on histopathological examination.

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The complex interaction between the immune system and autoinflammatory disorders highlights the centrality of autoimmune mechanisms in the pathogenesis of autoinflammatory diseases. With the exploration of PSTPIP2, it has been discovered to play an inhibitory role in immune diseases, suggesting its potential utility in the research and treatment of rheumatic diseases. This review outlines the mechanisms of PSTPIP2 in chronic multifocal osteomyelitis (CMO), rheumatoid arthritis (RA), synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome, liver diseases, renal diseases, pressure ulcer sepsis and diabetic obesity.

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Aim: SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a rare autoimmune disorder characterized by typical cutaneous lesions (palmoplantar pustulosis and eruptive acne) and osteoarticular symptoms (aseptic osteomyelitis and joint inflammation). This study aims to evaluate the therapeutic efficacy and safety of Janus kinase 1 (JAK1) inhibitor abrocitinib in patients with SAPHO syndrome.

Methods: We presented a patient with SAPHO syndrome with accelerated disease progression who did not respond to traditional therapies.

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SAPHO syndrome, a rare inflammatory disorder of bone, joints, and skin, is named based on the presence of synovitis, acne, pustulosis, hyperostosis, and osteitis. The hallmark of SAPHO syndrome includes osteoarticular and dermatologic manifestations, however, rarer associations with inflammatory bowel disease (particularly Crohn's disease) have been documented. The literature on the relationship between SAPHO syndrome and inflammatory bowel disease (IBD), especially ulcerative colitis (UC), remains limited.

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Objective: To evaluate the long-term effectiveness of the combination of Iguratimod (IGU) and Alendronate for patients with Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) syndrome.

Methods: A prospective cohort study was conducted on patients diagnosed with SAPHO syndrome at Peking University Third Hospital and Beijing Jishuitan Hospital from 2017 to 2024. The initial treatment regimen comprised a combination of IGU and Alendronate.

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