Post-Graduate School of Pediatrics, University of Florence, Florence, Italy.
Department of NEUROFARBA, University of Florence, Florence, Italy.
Ital J Pediatr. 2020 Nov 13;46(1):169. doi: 10.1186/s13052-020-00933-1.
SAPHO (synovitis, acne, pustolosis, hyperostosis and osteitis) syndrome is a rare autoinflammatory chronic disorder, presenting with non-infectious osteitis, sterile joint inflammation and skin manifestations including palmoplantar pustolosis and severe acne. It could be often misdiagnosed for its heterogeneous clinical presentation. Treatment is challenging and, due to the rarity of this syndrome, no randomized controlled clinical trials have been conducted. Empirical treatments, including non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, antibiotics and bisphosphonates and disease-modifying anti-rheumatic drugs (DMARDs) could be quite effective. Anti-tumor necrosis factor-alpha (anti-TNF-α) agents and interleukin-1 (IL-1) antagonists have shown promising results in refractory patients. Isotretinoin, commonly used for severe acne, has been rarely described as possible trigger of osteo-articular manifestations, in particular sacroiliitis.
The case of a boy, affected by acne fulminans and depression, who presented with sacroiliitis after a 10-week treatment with isotretinoin is presented. After SAPHO diagnosis, NSAIDs therapy was started but the onset of bilateral gluteal hidradenitis suppurativa required the switch to a TNF-α antagonist (Adalimumab) with the achievement of a good control of the disease. Despite specific therapy with sertraline, the patient continued to complains severe depression.
Our case reports a temporal association between the onset of osteo-articular symptoms and the introduction of isotretinoin, as previously described. However, this timeline is not sufficient to establish a causal role of this drug into the pathogenesis of sacroiliitis. At this regard, further studies are required. The occurrence of hidradenitis suppurativa during SAPHO course supported the introduction of TNF-α blockers with a favourable result, as reported in a few cases in literature. The association between SAPHO syndrome and depressive mood disorders is already reported. Our patient experienced severe depression whose trend seems to be independent from the course of the main disease. Currently, it is not clarified if depression could be considered reactive to the underling disease or if it forms an integral part of the autoinflammatory disorder.
SAPHO（滑膜炎、痤疮、脓疱病、骨肥厚和骨炎）综合征是一种罕见的自身炎症性慢性疾病，表现为非感染性骨炎、无菌性关节炎症和皮肤表现，包括掌跖脓疱病和严重痤疮。由于其临床表现异质性，常被误诊。治疗具有挑战性，由于该综合征罕见，尚未进行随机对照临床试验。经验性治疗，包括非甾体抗炎药（NSAIDs）、皮质类固醇、抗生素和双膦酸盐以及改善病情的抗风湿药（DMARDs）可能非常有效。抗肿瘤坏死因子-α（抗 TNF-α）药物和白细胞介素-1（IL-1）拮抗剂在难治性患者中显示出有希望的结果。异维 A 酸，常用于严重痤疮，很少被描述为骨关节表现，特别是骶髂关节炎的可能触发因素。
介绍了一名男孩的病例，该男孩患有暴发性痤疮和抑郁症，在接受异维 A 酸治疗 10 周后出现骶髂关节炎。在诊断为 SAPHO 后，开始使用 NSAIDs 治疗，但双侧臀疝性汗腺炎的发作需要改用 TNF-α拮抗剂（阿达木单抗），从而实现疾病的良好控制。尽管使用舍曲林进行了特异性治疗，但患者仍持续严重抑郁。
我们的病例报告了骨关节炎症状与异维 A 酸引入之间的时间关联，如前所述。然而，这种时间线不足以确定该药物在骶髂关节炎发病机制中的因果作用。在这方面，需要进一步的研究。SAPHO 病程中发生汗腺炎支持引入 TNF-α 阻滞剂，这在文献中已有少数病例报道。SAPHO 综合征与抑郁情绪障碍之间的关联已有报道。我们的患者经历了严重的抑郁，其趋势似乎与主要疾病的病程无关。目前，尚不清楚抑郁是否可以被认为是对潜在疾病的反应，还是它是自身炎症性疾病的一个组成部分。
