Sondhi Manush, Maqsood Warda, Umer Sarwat
Internal Medicine, Louisiana State University Health Sciences Center, Shreveport, USA.
Rheumatology, Louisiana State University Health Sciences Center, Shreveport, USA.
Cureus. 2023 Jun 24;15(6):e40897. doi: 10.7759/cureus.40897. eCollection 2023 Jun.
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) is a relatively rare and often underdiagnosed disorder characterized by chronic inflammation affecting the bones, joints, and skin. While the precise cause of SAPHO syndrome remains elusive, multiple factors such as genetics, immunological dysregulation, and bacterial influences have been implicated in its pathogenesis. One notable aspect of SAPHO syndrome is the wide variability of symptoms experienced by afflicted individuals. A diverse array of osteoarticular manifestations may be observed, with common sites of involvement including the anterior chest wall, sacroiliac joints, and peripheral joints. Concurrently, patients often present with various skin disorders, such as palmoplantar pustulosis or acne, further adding to the complexity of the syndrome's clinical presentation. Treatment strategies for SAPHO syndrome primarily focus on managing symptoms and improving the quality of life for affected individuals. Nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, methotrexate (MTX), and tumor necrosis factor (TNF) inhibitors are considered to modulate the immune response and provide relief. One of the challenges encountered in diagnosing SAPHO syndrome is its potential overlap with other related conditions, leading to diagnostic confusion and difficulties. Distinguishing SAPHO syndrome from similar entities can be complex, requiring a comprehensive evaluation of clinical features, imaging studies, and laboratory investigations. We would like to share an intriguing case involving a 28-year-old woman who arrived with perplexing symptoms of pain in her bilateral hands and feet, her lower back, and acne in the bilateral upper arms and thighs. Through a comprehensive workup, the underlying SAPHO syndrome was uncovered, and it was effectively managed using adalimumab.
滑膜炎、痤疮、脓疱病、骨质增生和骨炎(SAPHO)综合征是一种相对罕见且常被漏诊的疾病,其特征是骨骼、关节和皮肤发生慢性炎症。虽然SAPHO综合征的确切病因尚不清楚,但遗传学、免疫调节异常和细菌感染等多种因素被认为与发病机制有关。SAPHO综合征的一个显著特点是患者症状差异很大。可观察到一系列多样的骨关节表现,常见受累部位包括前胸壁、骶髂关节和外周关节。同时,患者常伴有各种皮肤疾病,如掌跖脓疱病或痤疮,这进一步增加了该综合征临床表现的复杂性。SAPHO综合征的治疗策略主要集中在控制症状和提高患者生活质量。非甾体抗炎药(NSAIDs)、皮质类固醇、甲氨蝶呤(MTX)和肿瘤坏死因子(TNF)抑制剂被认为可调节免疫反应并缓解症状。诊断SAPHO综合征面临的挑战之一是它可能与其他相关疾病重叠,导致诊断混淆和困难。将SAPHO综合征与类似疾病区分开来可能很复杂,需要综合评估临床特征、影像学检查和实验室检查。我们想分享一个有趣的病例,一名28岁女性,出现双侧手足、下背部疼痛以及双侧上臂和大腿痤疮等令人困惑的症状。通过全面检查,发现了潜在的SAPHO综合征,并使用阿达木单抗进行了有效治疗。