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VEXAS syndrome in dermatology.
- Source :
-
Archives of Dermatological Research . Mar2023, Vol. 315 Issue 2, p161-164. 4p. - Publication Year :
- 2023
-
Abstract
- Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein. Loss of UBA1 leads to a broad range of inflammatory conditions and a clinical course often refractive to therapy. We present the cases of two patients who demonstrated a rapid decline in overall health, decreased energy, arthralgias, anemia, fever, increased inflammatory markers, and characteristic bone marrow. Importantly, dermatologic assessment revealed skin biopsy findings of medium-vessel vasculitis and neutrophilic infiltration. Following blood analysis, both patients were diagnosed with VEXAS syndrome resulting from a mutation in the UBA1 gene. Our report highlights the pivotal role dermatologists have in early diagnosis of patients with VEXAS syndrome. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03403696
- Volume :
- 315
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Archives of Dermatological Research
- Publication Type :
- Academic Journal
- Accession number :
- 161960862
- Full Text :
- https://doi.org/10.1007/s00403-022-02340-4