Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid-Lineage Hematologic Abnormality.

IF 2.9 Q2 RHEUMATOLOGY
Laura Di Centa, Simone Longhino, Valeria Manfrè, Stefania Sacco, Luca Quartuccio
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引用次数: 0

Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid-lineage progenitors. Sensitive markers include macrocytic anemia, vacuolization of bone marrow precursors, and myelodysplasia. Here, we report the first case of VEXAS syndrome presenting with neutrophilic dermatosis and a serum monoclonal component, without myeloid-lineage hematologic abnormalities atonset. This case underscores the importance of including VEXAS syndrome in the differential diagnosis when monoclonal gammopathy is associated with rheuamtologic features, particularly in older patients presenting with unexplained cutaneous inflammatory manifestations and a serum clonal component, as such presentations may precede the development of classical hematologic abnormalities.

揭示VEXAS综合征:当皮肤表现和单克隆γ病先于髓系血液学异常时。
VEXAS(液泡、E1酶、x连锁、自身炎症、躯体)综合征是一种罕见的由体细胞UBA1基因突变引起的疾病,以自身炎症和血液学异常为特征,尤其影响髓系祖细胞。敏感的标志物包括巨细胞性贫血、骨髓前体空泡化和骨髓发育不良。在这里,我们报告了第一位以中性粒细胞皮肤病和血清单克隆成分为表现的VEXAS综合征,在发病时没有髓系血液学异常。该病例强调了当单克隆伽马病与风湿病特征相关时,特别是在出现无法解释的皮肤炎症表现和血清克隆成分的老年患者中,将VEXAS综合征纳入鉴别诊断的重要性,因为这些表现可能先于经典血液学异常的发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
5.80
自引率
0.00%
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10 weeks
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