VEXAS综合征的结膜下病变:扩大眼部疾病的范围。

IF 1.3 4区 医学 Q3 OPHTHALMOLOGY
Jai Paris, Abdullah Almater, Terence Ang, Dinesh Selva
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引用次数: 0

摘要

空泡,E1酶,x -连锁,自体炎症,躯体,综合征是一种新认识的自体炎症疾病。我们报告了一个新的情况下提出结膜下病变作为一个眼部表现。77岁男性,双侧眼眶肿胀,周围水肿,体重减轻,呼吸衰退,输血依赖性贫血。眼部检查显示眶周水肿、运动受限、明显的OS结膜注射和化脓,尤其集中在颞上结膜下病变周围。实验室结果显示炎症标志物升高和正红细胞性贫血。MRI显示左侧眶周水肿,无隔后受累。开始使用广谱抗生素治疗;然而,炎症和恶化仍在继续。结膜下病变活检显示非特异性纤维性物质,无感染或恶性肿瘤。通过检测体细胞泛素样修饰物激活酶1突变(c.121A>G, p.Met41Val)证实了空泡、E1酶、x连锁、自体炎症、体细胞的诊断。病人病情恶化,死于多器官衰竭。本病例增加了空泡、E1酶、x -连锁、自身炎症、躯体性的眼部表现,并强调了对疑似病例进行全面眼科评估的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Subconjunctival Lesion in VEXAS Syndrome: Expanding the Ocular Disease Spectrum.

Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic, syndrome is a newly recognized autoinflammatory disorder. We report a novel case presenting with a subconjunctival lesion as an ocular manifestation. A 77-year-old man presented with bilateral orbital swelling, peripheral edema, weight loss, respiratory decline, and transfusion-dependent anemia. Ocular examination revealed periorbital edema, restricted motility, significant OS conjunctival injection and chemosis, particularly focused around a superotemporal subconjunctival lesion. Laboratory results showed raised inflammatory markers and normocytic anemia. MRI showed left periorbital edema without postseptal involvement. Treatment with broad-spectrum antibiotics was commenced; however, inflammation and deterioration progressed. Biopsy of the subconjunctival lesion revealed nonspecific fibrinous material without infection or malignancy. Diagnosis of Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic was confirmed by detecting a somatic ubiquitin-like modifier activating enzyme 1 mutation (c.121A>G, p.Met41Val). The patient deteriorated and died of multiorgan failure. This case adds to the expanding spectrum of ophthalmic manifestations in Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic, and highlights the need for thorough ocular evaluation in suspected cases.

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来源期刊
CiteScore
2.50
自引率
10.00%
发文量
322
审稿时长
3-8 weeks
期刊介绍: Ophthalmic Plastic and Reconstructive Surgery features original articles and reviews on topics such as ptosis, eyelid reconstruction, orbital diagnosis and surgery, lacrimal problems, and eyelid malposition. Update reports on diagnostic techniques, surgical equipment and instrumentation, and medical therapies are included, as well as detailed analyses of recent research findings and their clinical applications.
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