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Review
. 2024 Mar;33(3):e15050.
doi: 10.1111/exd.15050.

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

Anis J Saad  1   2 , Mihir K Patil  1   3 , Nicolas Cruz  4 , Chloe S Lam  5 , Connor O'Brien  2 , Vinod E Nambudiri  1   4
Affiliations
Review

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

Anis J Saad et al. Exp Dermatol. 2024 Mar.

Abstract

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.

Keywords: VEXAS syndrome; autoimmunity; autoinflammation; emerging disease; inflammatory skin disease.

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References

REFERENCES

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    1. Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628-2638. doi:10.1056/NEJMoa2026834
    1. Georgin-Lavialle S, Terrier B, Guedon AF, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022;186(3):564-574. doi:10.1111/bjd.20805
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    1. Arlet JB, Benjamin T, Kosmider O. Mutant UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2021;384(22):2163-2165. doi:10.1056/NEJMc2102124

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