Ankita Dash, Art O'Hagan, Kristofer Holte, John Joseph Friel, Lakshmi Venkatraman
{"title":"VEXAS综合征的非典型表现:一个诊断难题。","authors":"Ankita Dash, Art O'Hagan, Kristofer Holte, John Joseph Friel, Lakshmi Venkatraman","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>VEXAS syndrome is a rare and recently identified autoinflammatory disorder recently, characterized by the involvement of multiple organ systems, with manifestations in dermatology, hematology, and rheumatology. The syndrome results from a somatic mutation in the UBA1 gene, leading to defective ubiquitin-mediated protein degradation, which triggers a cascade of inflammatory responses. We report the case of a 76-year-old male who presented with a recurrent rash initially suggestive of Sweet's syndrome. Following a comprehensive diagnostic workup, including genetic testing, the patient was diagnosed with VEXAS syndrome due to the identification of a pathogenic variant in the UBA1 gene. This case highlights the diagnostic challenges clinicians face when confronting rare syndromes with nonspecific clinical features. The absence of formal diagnostic criteria and its overlap with more common inflammatory and haematologic diseases complicates prompt diagnosis and management. Timely recognition, genetic confirmation, and early intervention are critical for preventing disease progression and improving outcomes in VEXAS patient.</p>","PeriodicalId":94250,"journal":{"name":"The Ulster medical journal","volume":"94 1","pages":"24-27"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042853/pdf/","citationCount":"0","resultStr":"{\"title\":\"An Atypical Presentation of VEXAS Syndrome: A Diagnostic Conundrum.\",\"authors\":\"Ankita Dash, Art O'Hagan, Kristofer Holte, John Joseph Friel, Lakshmi Venkatraman\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>VEXAS syndrome is a rare and recently identified autoinflammatory disorder recently, characterized by the involvement of multiple organ systems, with manifestations in dermatology, hematology, and rheumatology. The syndrome results from a somatic mutation in the UBA1 gene, leading to defective ubiquitin-mediated protein degradation, which triggers a cascade of inflammatory responses. We report the case of a 76-year-old male who presented with a recurrent rash initially suggestive of Sweet's syndrome. Following a comprehensive diagnostic workup, including genetic testing, the patient was diagnosed with VEXAS syndrome due to the identification of a pathogenic variant in the UBA1 gene. This case highlights the diagnostic challenges clinicians face when confronting rare syndromes with nonspecific clinical features. The absence of formal diagnostic criteria and its overlap with more common inflammatory and haematologic diseases complicates prompt diagnosis and management. Timely recognition, genetic confirmation, and early intervention are critical for preventing disease progression and improving outcomes in VEXAS patient.</p>\",\"PeriodicalId\":94250,\"journal\":{\"name\":\"The Ulster medical journal\",\"volume\":\"94 1\",\"pages\":\"24-27\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042853/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Ulster medical journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Ulster medical journal","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/30 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
An Atypical Presentation of VEXAS Syndrome: A Diagnostic Conundrum.
VEXAS syndrome is a rare and recently identified autoinflammatory disorder recently, characterized by the involvement of multiple organ systems, with manifestations in dermatology, hematology, and rheumatology. The syndrome results from a somatic mutation in the UBA1 gene, leading to defective ubiquitin-mediated protein degradation, which triggers a cascade of inflammatory responses. We report the case of a 76-year-old male who presented with a recurrent rash initially suggestive of Sweet's syndrome. Following a comprehensive diagnostic workup, including genetic testing, the patient was diagnosed with VEXAS syndrome due to the identification of a pathogenic variant in the UBA1 gene. This case highlights the diagnostic challenges clinicians face when confronting rare syndromes with nonspecific clinical features. The absence of formal diagnostic criteria and its overlap with more common inflammatory and haematologic diseases complicates prompt diagnosis and management. Timely recognition, genetic confirmation, and early intervention are critical for preventing disease progression and improving outcomes in VEXAS patient.