Jai Paris, Abdullah Almater, Terence Ang, Dinesh Selva
{"title":"VEXAS综合征的结膜下病变:扩大眼部疾病的范围。","authors":"Jai Paris, Abdullah Almater, Terence Ang, Dinesh Selva","doi":"10.1097/IOP.0000000000003030","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19588,"journal":{"name":"Ophthalmic Plastic and Reconstructive Surgery","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Subconjunctival Lesion in VEXAS Syndrome: Expanding the Ocular Disease Spectrum.\",\"authors\":\"Jai Paris, Abdullah Almater, Terence Ang, Dinesh Selva\",\"doi\":\"10.1097/IOP.0000000000003030\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":19588,\"journal\":{\"name\":\"Ophthalmic Plastic and Reconstructive Surgery\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-09-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ophthalmic Plastic and Reconstructive Surgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/IOP.0000000000003030\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Plastic and Reconstructive Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/IOP.0000000000003030","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
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.
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.