Furer Victoria, Kishimoto Mitsumasa, Tomita Tetsuya, Elkayam Ori, Helliwell Philip S
Rheumatology Department, Tel Aviv Sourasky Medical Center, School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Department of Nephrology and Rheumatology, Kyorin University School of Medicine, Tokyo, Japan.
Rheumatol Adv Pract. 2024 Oct 14;8(4):rkae114. doi: 10.1093/rap/rkae114. eCollection 2024.
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare, underdiagnosed disease with a wide clinical spectrum. Sterile bone inflammation, predominantly of the anterior chest, and skin manifestations (palmoplantar pustulosis, psoriasis vulgaris and acne) are the key features of SAPHO, which shares certain similarities with SpA. SAPHO is closely related to paediatric chronic non-bacterial osteitis (CNO), a spectrum of autoinflammatory bone diseases. The aetiology of SAPHO is considered multifactorial based on a complex interplay of genetic, immune and infectious factors. Despite the increasing awareness of SAPHO/CNO, diagnostic delay is common, as validated classification and diagnostic criteria are lacking. Treatment of SAPHO represents a challenge and includes anti-inflammatory drugs, antibiotics, bisphosphonates, synthetic conventional DMARDs and off-label use of anti-cytokine biologics and Janus kinase inhibitors. This review summarizes the current diagnostic and practical treatment approach to SAPHO/CNO and highlights the ongoing research endeavours concerning the definition and validation of diagnostic criteria, core domains and treatment.
滑膜炎、痤疮、脓疱病、骨质增生和骨炎（SAPHO）综合征是一种罕见的、诊断不足的疾病，临床谱广泛。无菌性骨炎症，主要累及前胸，以及皮肤表现（掌跖脓疱病、寻常型银屑病和痤疮）是SAPHO的关键特征，它与脊柱关节炎有某些相似之处。SAPHO与儿童慢性非细菌性骨炎（CNO）密切相关，CNO是一系列自身炎症性骨病。基于遗传、免疫和感染因素的复杂相互作用，SAPHO的病因被认为是多因素的。尽管对SAPHO/CNO的认识有所提高，但由于缺乏经过验证的分类和诊断标准，诊断延迟很常见。SAPHO的治疗是一项挑战，包括抗炎药、抗生素、双膦酸盐、合成传统改善病情抗风湿药以及抗细胞因子生物制剂和Janus激酶抑制剂的超说明书使用。本综述总结了目前SAPHO/CNO的诊断和实际治疗方法，并强调了在诊断标准、核心领域和治疗的定义及验证方面正在进行的研究工作。
