Istituto di Reumatologia e Scienze Affini, Università Cattolica del Sacro Cuore, Rome, Italy.
Institute of Rheumatology, School of Medicine, Catholic University of the Sacred Heart, Fondazione Policlinico Gemelli, CIC-Via Moscati 31, 00168, Rome, Italy.
Clin Rheumatol. 2017 Sep;36(9):2151-2158. doi: 10.1007/s10067-017-3751-1. Epub 2017 Jul 19.
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.
滑膜炎-痤疮-脓疱病-骨肥厚-骨炎（SAPHO）综合征是一种罕见疾病，由于其独特且异质性的临床表现，常被误诊和漏诊。其主要特征包括皮肤和骨关节表现，后者更常影响前胸壁，并具有典型的放射学发现。由于其罕见性，目前尚无 SAPHO 的明确诊断标准和治疗指南；因此，治疗是经验性的，旨在控制疼痛和炎症过程。迄今为止，抗 TNF 药物的使用已被证明是对传统治疗（如 NSAIDs、皮质类固醇、DMARDs 和双膦酸盐）无反应的患者的有效替代方法。由于不同表现的发病机制可能存在差异，疾病的临床表现存在异质性，这对诊断和治疗都是一个挑战，治疗应旨在控制不同临床亚型的皮肤和骨骼受累。在这里，我们总结了 SAPHO 综合征的当前知识状况，并介绍了两例具有非常不同临床表现的患者，提示需要个性化治疗。
