Ray Lauren C, Ayele Frehiywot
Internal Medicine, Emory University School of Medicine, Atlanta, USA.
Rheumatology, Emory University School of Medicine, Atlanta, USA.
Cureus. 2025 May 21;17(5):e84579. doi: 10.7759/cureus.84579. eCollection 2025 May.
Sarcoidosis is a systemic inflammatory disease characterized by the formation of non-necrotizing granulomas in affected tissues. While it most commonly involves the lungs and intrathoracic lymph nodes, it can affect virtually any organ system. Osseous sarcoidosis is a less common manifestation, and its prevalence may be underrepresented, as many patients remain asymptomatic. When symptoms do occur, they may include bone pain, reduced exercise capacity, or localized swelling. The spine is the most frequently involved site. In this case series, we present three distinct patients with osseous sarcoidosis: Patient A was diagnosed with sarcoidosis at age 31, initially presenting with pulmonary and sinonasal involvement. Years later, he developed dactylitis in his right third digit. A hand X-ray revealed osseous sarcoidosis in multiple fingers, despite symptoms being limited to a single digit. He was treated with methotrexate and infliximab, with significant improvement. Patient B was diagnosed at age 40 with predominant neurological involvement. He later developed back pain, and imaging revealed lesions throughout the lumbar and sacral spine. A biopsy confirmed osseous sarcoidosis. Initial treatment included cyclophosphamide, and he is now maintained on azathioprine and adalimumab, which he tolerates well. Patient C was diagnosed at age 55. At 68, she developed neck and back pain. Imaging showed faint sclerotic lesions throughout the thoracic spine, raising concern for either metastatic disease or osseous sarcoidosis. Biopsy confirmed sarcoidosis. Despite treatment with infliximab, azathioprine, and low-dose prednisone, she continues to experience neck pain, which is managed with gabapentin. Sarcoidosis severity and clinical progression vary widely between individuals and can be unpredictable. Notably, all three patients in this series had initial presentations that did not involve bone, with osseous sarcoidosis being identified years after their initial diagnoses. At the time of osseous involvement, all had multi-organ disease. Interestingly, each case also revealed asymptomatic osseous lesions alongside symptomatic sites, suggesting that subclinical skeletal involvement may coexist even in patients presenting with localized symptoms. Early identification of osseous sarcoidosis may be valuable in recognizing patients at risk for more severe or multi-organ disease.
结节病是一种全身性炎症性疾病,其特征是在受影响的组织中形成非坏死性肉芽肿。虽然它最常累及肺部和胸内淋巴结,但实际上可影响任何器官系统。骨结节病是一种较不常见的表现形式,其患病率可能被低估,因为许多患者没有症状。当出现症状时,可能包括骨痛、运动能力下降或局部肿胀。脊柱是最常受累的部位。在这个病例系列中,我们展示了三名患有骨结节病的不同患者:患者A在31岁时被诊断为结节病,最初表现为肺部和鼻窦受累。数年后,他右手第三指出现了指(趾)炎。手部X线检查显示多个手指存在骨结节病,尽管症状仅限于单个手指。他接受了甲氨蝶呤和英夫利昔单抗治疗,病情有显著改善。患者B在40岁时被诊断为主要累及神经系统。他后来出现背痛,影像学检查显示腰椎和骶椎有病变。活检证实为骨结节病。初始治疗包括环磷酰胺,他现在维持使用硫唑嘌呤和阿达木单抗,耐受性良好。患者C在55岁时被诊断。68岁时,她出现颈部和背部疼痛。影像学检查显示胸椎有模糊的硬化性病变,引起对转移性疾病或骨结节病的担忧。活检证实为结节病。尽管接受了英夫利昔单抗、硫唑嘌呤和低剂量泼尼松治疗,但她仍持续感到颈部疼痛,通过加巴喷丁进行治疗。结节病的严重程度和临床进展在个体之间差异很大,且可能无法预测。值得注意的是,本系列中的所有三名患者最初的表现均未累及骨骼,骨结节病是在他们最初诊断数年之后才被发现的。在出现骨受累时,他们都患有多器官疾病。有趣的是,每个病例在有症状的部位旁边还发现了无症状的骨病变,这表明即使在表现为局部症状的患者中,亚临床骨骼受累也可能并存。早期识别骨结节病对于识别有更严重或多器官疾病风险的患者可能具有重要价值。