Skin Manifestations of VEXAS Syndrome and Associated Genotypes

JAMA Dermatology, Journal Year: 2024, Volume and Issue: 160(8), P. 822 - 822

Published: June 12, 2024

Importance VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined genetic disease with an estimated prevalence of 1 in 4269 men older than 50 years and marked by systemic inflammation, progressive bone marrow failure, inflammatory cutaneous manifestations. Objective To define the spectrum manifestations association these findings clinical, genetic, histological features. Design, Setting, Participants This observational cohort study included data from 112 patients who were diagnosed VEXAS-defining variants UBA1 between 2019 2023. Data collected medical record review or directly evaluated at National Institutes Health Bethesda, Maryland. Main Outcomes Measures histological, other clinical findings. A secondary outcome was response to treatment VEXAS. Results Among (median [range] age, 69 [39-79] years; 111 [99%] male), skin involvement common (93 [83%]), most frequent presenting feature (68 [61%]). Of 64 histopathologic reports available 60 patients, predominant leukocytoclastic vasculitis (23 [36%]), neutrophilic dermatosis (22 [34%]), perivascular dermatitis (19 [30%]). Distinct pathogenic associated specific The p.Met41Leu variant frequently dermal infiltrates (14 17 [82%]), often resembling histiocytoid Sweet syndrome. In contrast, p.Met41Val vasculitic lesions (11 20 [55%]) mixed leukocytic infiltrate (17 [85%]). Oral prednisone improved 67 73 (92%). Patients treated anakinra developed severe injection-site reactions (12 16 [75%]), including ulceration (2 12 [17%]) abscess formation (1 [8%]). Conclusions Relevance this show that are early manifestation Genetic evaluation for should be considered male vasculitis, dermatoses, chondritis. Awareness among dermatologists critical facilitate diagnosis.

Language: Английский

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Altered IgG4 serum levels in VEXAS syndrome – a retrospective monocentric cohort study

Rheumatology International, Journal Year: 2025, Volume and Issue: 45(4)

Published: March 22, 2025

Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder characterized by somatic mutations in the UBA1 gene hematopoietic stem cells and associated with diffuse inflammation myelodysplastic changes amongst others. Due to unspecific symptoms diagnosis challenging, there unmet need for clinical markers select patients genetic examination. Sera of 9 confirmed were analyzed immunoglobulin (Ig)G4 levels. Disease parameters response therapy correlated IgG4 A histopathological examination was performed on available samples exclude IgG4-related autoimmune diseases. In this cohort, 44% our showed markedly elevated serum We observed a general trend toward positive correlation between levels inflammatory as well one patient. Histopathological analysis no evidence related disease. seem be relevant fraction syndrome. some cases, might misinterpreted disease, pitfall clinicians should aware of. Furthermore, results warrant further evaluation potential disease activity severity inflammation. useful course.

Language: Английский

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Therapeutic Challenges in the Management of VEXAS Syndrome: A Case Report

Australasian Journal of Dermatology, Journal Year: 2025, Volume and Issue: unknown

Published: April 6, 2025

ABSTRACT VEXAS syndrome is a newly described autoinflammatory and haematologic condition that has variable cutaneous systemic presentations. We present case of in 63‐year‐old male with treatment refractory pyoderma gangrenosum complex dermatologic history. hope it informs encourages dermatologists to consider early diagnostic testing for any over 50 years age neutrophilic dermatosis unexplained autoinflammation.

Language: Английский

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Rapid screening and monitoring of UBA1 mutations in VEXAS syndrome.

Journal of Molecular Diagnostics, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Language: Английский

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Emerging treatment approaches for VEXAS syndrome: a systematic review and meta-analysis

Annals of Hematology, Journal Year: 2025, Volume and Issue: unknown

Published: April 27, 2025

Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic autoinflammatory disorder with significant morbidity and mortality. Numerous treatment options including azacitidine, JAK inhibitors, IL-6 anti-IL-1, anti-TNF agents have been proposed. However, no consensus on optimal algorithm has reached. This study aims to evaluate the efficacy safety of medical through meta-analysis existing data help establish clearer guidelines for managing VEXAS. The protocol was registered in PROSPERO (CRD42024590134). MEDLINE EMBASE were screened from inception until March 2025. We included patients who received or agents. primary outcome proportion complete responders. Partial response reported adverse events also evaluated. A total 16 studies 367 included. Concomitant myelodysplastic (MDS) 149 (40.6%) patients. Azacitidine resulted partial 67% [95% CI (0.56,0.77)] 73% (0.64,0.82)] cases, respectively. inhibitors produced 42% (0.33,0.52)] 79% (0.71,0.87)]. led 24% (0.15,0.32)] 72% (0.64,0.81)]. Adverse frequently observed. demonstrated MDS. may be viable options. Prospective clinical trials are needed further confirmation results.

Language: Английский

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Case report: Lower limb pseudocellulitis due to calf myositis in VEXAS syndrome

International Journal of Rheumatic Diseases, Journal Year: 2024, Volume and Issue: 27(7)

Published: July 1, 2024

Language: Английский

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Otorhinolaryngological manifestations of autoinflammatory diseases. Systematic review

Acta Otorrinolaringologica (English Edition), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 1, 2024

Language: Английский

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