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. 2022 Nov;63(4):488-492.
doi: 10.1111/ajd.13932. Epub 2022 Oct 5.

VEXAS syndrome: A dermatological perspective

Jacqueline K Nguyen  1 , David Routledge  2   3 , Carrie van Der Weyden  2 , Piers Blombery  2   3 , Christopher M Angel  4 , Daryl Johnson  5 , Michelle S Goh  1   6 , Adriene Lee  1
Affiliations

VEXAS syndrome: A dermatological perspective

Jacqueline K Nguyen et al. Australas J Dermatol. 2022 Nov.

Abstract

VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a genetically defined disorder identified in 2020, describing patients with inflammatory syndromes associated with haematological dysfunction. It is a severe, treatment-resistant condition, with estimated mortality between 40% and 63%. A wide range of cutaneous manifestations have been described. Here, we report on two patients with treatment-resistant neutrophilic dermatosis and myelodysplastic syndrome, who were subsequently diagnosed with VEXAS syndrome. Our cases highlight the need for dermatologists' awareness of this novel condition and to initiate early referral to haematologists for appropriate multidisciplinary care.

Keywords: UBA1 protein; X-linked; genetic skin diseases; myelodysplastic syndromes; sweet syndrome.

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References

REFERENCES

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