A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome

棘手的诊断:耳鼻喉科表现的空泡、E1酶、X连锁、自身炎症性、躯体(VEXAS)综合征

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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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