<i>TREX1</i>-Associated Familial Chilblain Lupus With Cerebral Aneurysms Treated With Janus Kinase Inhibition
Familial chilblain lupus (FCL) is a rare monogenic interferonopathy associated with multiple genetic mutations, including <i>TREX1</i>, characterized by painful, bluish-red skin lesions on acral areas, typically after cold exposure.<sup>1-3</sup> Associated symptoms include inflammatory arthritis, cytopenias, antinuclear antibody (ANA) positivity, and rarely, cerebral aneurysms.<sup>4,5</sup>
Authors
- Volodko Bakowsky
- Lindsay Kristin Cho (ORCID: https://orcid.org/0000-0001-7632-7649)
- Alexandra Legge (ORCID: https://orcid.org/0000-0003-0373-4985)
Institutions
- Dalhousie University (CA)
- University of British Columbia (CA)
- Nova Scotia Health Authority (CA)
- Nova Scotia Cancer Centre (CA)
Publication Details
- Journal
- The Journal of Rheumatology
- Published
- 2025-02-01
- DOI
- https://doi.org/10.3899/jrheum.2024-1231
- Primary Topic
- Dermatological and COVID-19 studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00