本研究旨在描述一系列与系统性硬化症(SSc)相关的臂颈炎症性肌病(BCIM),由于其稀有性和已发布数据的覆盖范围有限。另一个目的是提供文献综述。我们报告了来自三级中心的4例BCIM-SSc病例。此外,我们研究了文献,发现了6篇文章,其中17名患者符合该表型。我们汇集了所有病例并报告了它们的特征。大多数患者是女性,SSc有限,BCIM出现的中位时间为SSc诊断后3年。不对称肌肉受累,肩胛骨翼,掉头,轴向薄弱,camptocormia,吞咽困难,皮肌炎柱头是共同特征。所有患者均有食管受累。大多数有阳性的抗核抗体结果,他们的毛细血管镜检查图像中的硬皮病模式,血清肌酸磷酸激酶升高,肌病电生理学,和肌肉参与磁共振成像。肌肉组织病理学发现差异很大,但总的来说,所有这些都显示出淋巴浸润的存在,肌肉萎缩,MHC-I表达增加,MAC存款,血管病变,和肌纤维坏死.对免疫抑制治疗的反应非常不规则。BCIM-SSc是一种罕见的疾病,在描述的病例中具有许多相似的表型,但对治疗有高度异质性的反应。目前,更多关于病理生理学的数据,临床特征,仍然需要治疗。
This study was aimed at describing a
case series of brachio-cervical inflammatory myopathy (BCIM) associated with systemic sclerosis (SSc), due to its rarity and limited coverage in published data. Another aim was to provide a literature review. We reported four cases of BCIM-SSc from our tertiary center. In addition, we researched the literature and found six articles featuring 17 patients who fit this phenotype. We pooled all cases and reported their features. Most patients were female and had limited SSc, and the median time of BCIM presentation was three years after SSc diagnosis. Asymmetric muscle involvement, scapular winging, dropped head, axial weakness, camptocormia, dysphagia, and dermatomyositis stigmas were common features. All patients had esophageal involvement. Most had positive antinuclear antibody results, a scleroderma pattern in their capillaroscopy images, elevated serum creatine phosphokinase, myopathic electrophysiology, and muscle involvement in magnetic resonance imaging. Muscle histopathological findings varied widely, but in general all showed the presence of lymphoid infiltrates, muscle atrophy, increased MHC-I expression, MAC deposits, vasculopathy, and muscle fiber necrosis. The response to immunosuppressive therapy was highly irregular. BCIM-SSc is a rare disorder that shares many similar phenotypes among the described cases, but has a highly heterogeneous response to treatment. At present, more data on the physiopathology, clinical features, and treatment is still needed.