The First Korean Case of VEXAS Syndrome Caused by a <i>UBA1</i> Somatic Variant

Yoon, Jihoon G.; Lee, Seungbok; Kim, Sheehyun; Kim, Man Jin; Chang, Yoon Hwan; Park, Jin Kyun; Shin, Dong‐Yeop; Moon, Jangsup

doi:10.3343/alm.2023.43.2.217

Cited by 5 publications

(1 citation statement)

References 10 publications

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“…While several DMARDs have been trialled in VEXAS patients, including azathioprine, hydroxychloroquine, leflunomide and sulfasalazine, DMARDs have shown limited effectiveness 11,43,51–53 …”

Section: Vexas Syndrome Treatmentsmentioning

confidence: 99%

VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease

Saad,

Patil,

Cruz

et al. 2024

Experimental Dermatology

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VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late‐onset, disorder first identified in 2020. It is caused by mutations in the UBA1 gene. The most prominent clinical features reported by VEXAS patients are cutaneous and haematological, having characteristic skin features reported as the initial presenting findings of the disease. VEXAS is a severe and treatment‐resistant condition with high morbidity and mortality rates. Here, we examine all case reports and case series of VEXAS syndrome through March 2023 focusing on those presenting cutaneous manifestations. We discuss these manifestations and their reported treatment strategies. In many cases, it might be first suspected and diagnosed by dermatologists, highlighting their vital role in initiating timely multidisciplinary care.

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Section: Vexas Syndrome Treatmentsmentioning

confidence: 99%