VEXAS syndrome: A dermatological perspective

• Published in: Australasian journal of dermatology Vol. 63; no. 4; pp. 488 - 492
• Main Authors: Nguyen, Jacqueline K., Routledge, David, Weyden, Carrie, Blombery, Piers, Angel, Christopher M., Johnson, Daryl, Goh, Michelle S., Lee, Adriene
• Format: Journal Article
• Language: English
• Published: Boronia Park Wiley Subscription Services, Inc 01-11-2022
• Subjects: genetic skin diseases; Inflammation; Leukocytes (neutrophilic); Myelodysplastic syndrome; myelodysplastic syndromes; Patients; sweet syndrome; UBA1 protein; Vacuoles; X‐linked
• ISSN: 0004-8380; 1440-0960
• DOI: 10.1111/ajd.13932

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.