Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality
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, vacuol...
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| Format: | Article |
| Language: | English |
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Wiley
2025-06-01
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| Series: | ACR Open Rheumatology |
| Online Access: | https://doi.org/10.1002/acr2.70064 |
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| author | Laura Di Centa Simone Longhino Valeria Manfrè Stefania Sacco Luca Quartuccio |
| author_facet | Laura Di Centa Simone Longhino Valeria Manfrè Stefania Sacco Luca Quartuccio |
| author_sort | Laura Di Centa |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e8d47940b9fb40fa9ad8c8698462271d |
| institution | Kabale University |
| issn | 2578-5745 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | ACR Open Rheumatology |
| spelling | doaj-art-e8d47940b9fb40fa9ad8c8698462271d2025-08-20T03:35:25ZengWileyACR Open Rheumatology2578-57452025-06-0176n/an/a10.1002/acr2.70064Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic AbnormalityLaura Di Centa0Simone Longhino1Valeria Manfrè2Stefania Sacco3Luca Quartuccio4Division of Rheumatology, Department of Medicine University of Udine, Academic Hospital “Santa Maria della Misericordia,” Udine ItalyDivision of Rheumatology, Department of Medicine University of Udine, Academic Hospital “Santa Maria della Misericordia,” Udine ItalyDivision of Rheumatology, Department of Medicine University of Udine, Academic Hospital “Santa Maria della Misericordia,” Udine ItalyDivision of Rheumatology, Department of Medicine University of Udine, Academic Hospital “Santa Maria della Misericordia,” Udine ItalyDivision of Rheumatology, Department of Medicine University of Udine, Academic Hospital “Santa Maria della Misericordia,” Udine ItalyVEXAS (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.https://doi.org/10.1002/acr2.70064 |
| spellingShingle | Laura Di Centa Simone Longhino Valeria Manfrè Stefania Sacco Luca Quartuccio Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality ACR Open Rheumatology |
| title | Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality |
| title_full | Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality |
| title_fullStr | Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality |
| title_full_unstemmed | Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality |
| title_short | Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality |
| title_sort | unveiling vexas syndrome when skin manifestations and monoclonal gammopathy precede myeloid lineage hematologic abnormality |
| url | https://doi.org/10.1002/acr2.70064 |
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