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全身性水肿作为抗TIF1γ阳性皮肌炎的首发表现并伴发卵巢癌:一例病例报告

Generalized edema as the initial manifestation of Anti-TIF1γ-positive dermatomyositis associated with ovarian cancer.

临床研究咽喉科IF 3.2Q2

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中文摘要

背景: 全身性水肿是皮肌炎(DM)的一种少见表现,可能促使临床医生考虑其他系统性疾病。抗转录中介因子1γ(TIF1γ)抗体与DM患者恶性肿瘤风险增加及吞咽困难相关。方法:我们报告一名82岁女性,抗TIF1γ阳性DM,最初表现为全身性水肿,随后出现进行性吞咽困难和近端肌无力。结果:皮肤表现、抗TIF1γ抗体阳性、肌电图、肌肉磁共振成像和肌肉活检确立了DM的诊断。随后的恶性肿瘤筛查发现了卵巢癌。尽管接受了免疫治疗,严重吞咽困难仍持续存在,需要长期鼻胃管喂养。结论:本病例强调全身性水肿可作为抗TIF1γ阳性DM的早期表现,并提示其可能先于该疾病更典型的表现出现,从而可能导致诊断延迟。

英文摘要

Generalized edema is an uncommon manifestation of dermatomyositis (DM) and may lead clinicians to consider alternative systemic conditions. Anti-transcriptional intermediary factor 1 gamma (TIF1γ) antibodies are associated with an increased risk of malignancy and dysphagia in patients with DM. We report an 82-year-old woman with anti-TIF1γ-positive DM who initially presented with generalized edema, followed by progressive dysphagia and proximal muscle weakness. Skin manifestations, anti-TIF1γ antibody positivity, electromyography, muscle magnetic resonance imaging, and muscle biopsy established the diagnosis of DM. Subsequent malignancy screening identified ovarian cancer. Despite immunotherapy, severe dysphagia persisted and required prolonged nasogastric tube feeding. This case highlights generalized edema as an early manifestation of anti-TIF1γ-positive DM and suggests that it may precede more typical manifestations of the disease, potentially leading to diagnostic delay.