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VEXAS syndrome in dermatology
Vince Afsahi1, Rachel E Christensen2, Murad Alam3,4,5,6
1South Coast Dermatology Institute, Tustin, CA, USA.
Archives of Dermatological Research
|February 24, 2022
Summary
Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a rare genetic disorder caused by UBA1 gene mutations. Early dermatologic diagnosis is crucial for managing this severe condition.
Area of Science:
- Genetics
- Immunology
- Dermatology
Background:
- Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently identified severe disease.
- It stems from somatic mutations in the UBA1 gene, impacting the E1 ubiquitin-activating enzyme.
- This genetic defect leads to diverse inflammatory conditions often resistant to treatment.
Purpose of the Study:
- To report two VEXAS syndrome cases with distinct clinical and dermatological manifestations.
- To emphasize the importance of dermatological assessment in early VEXAS syndrome diagnosis.
Main Methods:
- Case report of two patients presenting with systemic symptoms and hematologic abnormalities.
- Dermatological examination including skin biopsies.
- Genetic analysis confirming UBA1 gene mutation.
Main Results:
- Both patients exhibited rapid health decline, anemia, fever, and elevated inflammatory markers.
- Skin biopsies revealed medium-vessel vasculitis and neutrophilic infiltration.
- Genetic testing confirmed VEXAS syndrome due to UBA1 mutation.
Conclusions:
- Dermatologists play a critical role in the early identification of VEXAS syndrome.
- Recognizing specific dermatologic findings can expedite diagnosis and treatment initiation.
- VEXAS syndrome requires a multidisciplinary approach for effective management.
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