VEXAS syndrome: A dermatological perspective
- Author(s)
- Nguyen, JK; Routledge, D; van der Weyden, C; Blombery, P; Angel, CM; Johnson, D; Goh, MS; Lee, A;
- Details
- Publication Year 2022-11,Volume 63,Issue #4,Page 488-492
- Journal Title
- Australasian Journal of Dermatology
- Publication Type
- Case report
- 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
- Humans; *Sweet Syndrome/diagnosis; *Myelodysplastic Syndromes/complications/diagnosis/genetics; Mutation; UBA1 protein; X-linked; genetic skin diseases; myelodysplastic syndromes; sweet syndrome
- Department(s)
- Haematology; Pathology; Surgical Oncology
- PubMed ID
- 36197697
- Publisher's Version
- https://doi.org/10.1111/ajd.13932
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2025-02-07 07:07:10
Last Modified: 2025-02-07 07:08:20