VEXAS syndrome with cutaneous nodules

Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered. The clinical features of VEXAS syndrome are heterogeneous, including highgrade fever, polychondritis and skin lesions. In 202...

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Detalles Bibliográficos
Autor principal: Argobi, Yahya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251529/
https://www.ncbi.nlm.nih.gov/pubmed/35795842
http://dx.doi.org/10.4081/dr.2022.9414
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author Argobi, Yahya
author_facet Argobi, Yahya
author_sort Argobi, Yahya
collection PubMed
description Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered. The clinical features of VEXAS syndrome are heterogeneous, including highgrade fever, polychondritis and skin lesions. In 2020, Beck DB et al described an original cohort of 25 patients, of whom 22 (88%) had cutaneous findings, namely, neutrophilic dermatitis, and vasculitis. We report a case of VEXAS syndrome and cutaneous nodules with confirmed UBA1 mutation.
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spelling pubmed-92515292022-07-05 VEXAS syndrome with cutaneous nodules Argobi, Yahya Dermatol Reports Case Report Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered. The clinical features of VEXAS syndrome are heterogeneous, including highgrade fever, polychondritis and skin lesions. In 2020, Beck DB et al described an original cohort of 25 patients, of whom 22 (88%) had cutaneous findings, namely, neutrophilic dermatitis, and vasculitis. We report a case of VEXAS syndrome and cutaneous nodules with confirmed UBA1 mutation. PAGEPress Publications, Pavia, Italy 2021-12-28 /pmc/articles/PMC9251529/ /pubmed/35795842 http://dx.doi.org/10.4081/dr.2022.9414 Text en ©Copyright: the Author(s) https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Case Report
Argobi, Yahya
VEXAS syndrome with cutaneous nodules
title VEXAS syndrome with cutaneous nodules
title_full VEXAS syndrome with cutaneous nodules
title_fullStr VEXAS syndrome with cutaneous nodules
title_full_unstemmed VEXAS syndrome with cutaneous nodules
title_short VEXAS syndrome with cutaneous nodules
title_sort vexas syndrome with cutaneous nodules
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251529/
https://www.ncbi.nlm.nih.gov/pubmed/35795842
http://dx.doi.org/10.4081/dr.2022.9414
work_keys_str_mv AT argobiyahya vexassyndromewithcutaneousnodules

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