ArticleCureus2025
A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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4 authors.
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Abstract
We report a novel manifestation of Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome characterized by deep neck space involvement in a 75-year-old male. A diagnosis of VEXAS syndrome was established through genetic testing, which revealed variants in the UBA1 and DNMT3A genes following a collaborative multidisciplinary approach. This case highlights a novel syndrome for the ENT surgeon and represents the first case report of deep neck space involvement. It demonstrates the heterogeneity of ENT and soft tissue manifestations of the disease and the complex clinical presentation of this emergent autoinflammatory condition.
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