Observatoire français de 116 patients avec un syndrome VEXAS : corrélation phénotype–génotype et prise en charge

Georgin‐Lavialle, Sophie; Terrier, Benjamin; Guédon, A.; Estibaliz, L.; Heiblig, Maël; Comont, T.; Louis, Taylor J.; Lacombe, Victor G.; Fenaux, Pierre; Ardois, Samuel; Kosmider, Olivier; Mékinian, A.

doi:10.1016/j.revmed.2021.10.249

Cited by 3 publications

(6 citation statements)

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“…4 The amino acid substitution portends disease phenotype and prognosis. 2,5 VEXAS syndrome has predominantly been described in men aged 55 to 65 years, although women with monosomy X have also been reported. [4][5][6] A recent observational study suggests VEXAS syndrome prevalence is 1 in 13 591 individuals.…”

Section: Discussionmentioning

confidence: 99%

“…2,5 VEXAS syndrome has predominantly been described in men aged 55 to 65 years, although women with monosomy X have also been reported. [4][5][6] A recent observational study suggests VEXAS syndrome prevalence is 1 in 13 591 individuals. 6 Patients typically present with fever, skin lesions (usually neutrophilic der- matosis), and hematologic abnormalities (eg, macrocytic anemia and thrombocytopenia).…”

Section: Discussionmentioning

confidence: 99%

“…Additional signs of inflammation (eg, arthritis, pulmonary infiltrates, venous thrombosis, chondritis, periorbital edema, vasculitis, uveitis, episcleritis, and hearing loss) are frequently reported, as are elevated inflammatory markers. 1,2,[4][5][6][7] Biopsy specimens of skin manifestations typically reveal superficial dermal infiltration of immature nonblastic myeloid cells, histiocytes, and lymphocytes. 7 Bone marrow biopsy reveald hypercellular marrow with cytoplasmic vacuoles in the myeloid and erythroid precursors.…”

Section: Discussionmentioning

confidence: 99%

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Treatment-Resistant Edematous Annular Plaques and Mild Leukopenia in a Man in His 60s

2023

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Treatment-Resistant Edematous Annular Plaques and Mild Leukopenia in a Man in His 60s

2023

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“…Chondritis, periorbital edemas, arthritis, neutrophilic dermatosis, fever, chronic inflammation, and macrocytic anemia are the main manifestations of VEXAS syndrome, but the rarest involvements still need to be specified. 1,2,4 The diagnosis of VEXAS syndrome is highly suspected in cases of abundant vacuolated neutrophil precursors in bone marrow aspiration, 5 and confirmed by UBA1 sequencing. 1 These cases highlight that ENT involvements include nonchondritis features, which may be the main and revealing features.…”

Section: Lettersmentioning

confidence: 99%

“…1 Ear and nose chondritis are some of the main involvements, but the spectrum of ear, nose, and throat (ENT) features in this recently identified disease is not yet extensively known. 2,3 We report 3 cases of VEXAS syndrome with atypical or not previously described ENT involvements.…”

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confidence: 92%

Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome

Beaumesnil

Boucher

Lavigne

et al. 2022

JAMA Otolaryngol Head Neck Surg

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lesion at the cerebellopontine angle, and spindle cell histologic findings are suggestive of a schwannoma; however, this was ruled out by immunonegative S-100 findings. Infantile hemangioma (IH) was ruled out by the glomeruloid-like architecture of the vascular epithelial nodules, not seen in IH. 1 An additional concern with KHE is the development of KMS. Although KMS has been reported in small (<5 cm) KHEs, it is hypothesized that KMS is more likely with larger retroperitoneal and mediastinal KHEs in younger patients. 1,3 The small size of the KHE at diagnosis may have preempted development of KMS in this patient.Rapid growth and location rendered treatment necessary. Surgical intervention is typically the first-line treatment. Steroids, interferon, and vincristine have been part of the treatment regimen when resection is difficult, as in this case. 2 However, success with these agents has been limited, leading to investigation of other pharmaceuticals. Several studies support the efficacy of sirolimus in reducing tumor size and controlling hematopoietic values. 5 Sirolimus was thus chosen as the initial treatment with good early results.

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Skin Manifestations of VEXAS Syndrome and Associated Genotypes

Tan,

Ferrada,

Ahmad

et al. 2024

JAMA Dermatol

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

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Observatoire français de 116 patients avec un syndrome VEXAS : corrélation phénotype–génotype et prise en charge

Cited by 3 publications

References 0 publications

Treatment-Resistant Edematous Annular Plaques and Mild Leukopenia in a Man in His 60s

Treatment-Resistant Edematous Annular Plaques and Mild Leukopenia in a Man in His 60s

Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome

Skin Manifestations of VEXAS Syndrome and Associated Genotypes

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