VEXAS syndrome: A new mimicker of idiopathic multicentric Castleman disease.
Joint Bone Spine
; 91(4): 105731, 2024 Jul.
Article
em En
| MEDLINE
| ID: mdl-38583690
ABSTRACT
INTRODUCTION:
Idiopathic Multicentric Castleman Disease (iMCD) is a complex and poorly understood pathophysiological entity, which encompasses a variety of conditions and can mimic or be associated with autoimmune/autoinflammatory diseases, making it challenging to diagnose and treat. Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder associated with hematological abnormalities and caused by acquired somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene (UBA1) which shares several common clinical and biological signs with iMCD. In this article, we report a patient with VEXAS syndrome initially presenting as iMCD, questioning the link between these two entities. CASE DESCRIPTION We report here a patient initially presenting as iMCD, proved on lymph node histology, which turns out to have a mutation at the splice acceptor site of exon 3 of UBA1 exhibiting VEXAS syndrome with Castleman-like lymph node.CONCLUSION:
This is only the second case of VEXAS syndrome presenting as iMCD. VEXAS syndrome should therefore be considered in the presence of iMCD suspicion, including in cases of compatible histology.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperplasia do Linfonodo Gigante
/
Enzimas Ativadoras de Ubiquitina
Limite:
Adult
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Joint Bone Spine
Ano de publicação:
2024
Tipo de documento:
Article