A case of VEXAS syndrome with Sweet's disease and pulmonary involvement

Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review

“…56.1% of included patients had pulmonary involvement at presentation. The most frequently described manifestation was pulmonary infiltrates (43.1%; n = 116) [ 1 , 8 , 12 – 34 ], followed by pleural effusion (7.4%; n = 20) [ 8 , 18 , 20 , 22 , 24 , 27 , 28 , 32 , 35 ] and idiopathic interstitial pneumonia (3.3%; n = 9) [ 14 , 18 , 25 , 27 , 28 , 32 , 36 , 37 ]. Other pulmonary manifestations described were NSIP ( n = 1) [ 14 ]; bronchiolitis obliterans ( n = 3) [ 14 ]; pulmonary vasculitis ( n = 6) [ 14 , 24 ]; bronchiectasis ( n = 1) [ 14 ]; alveolar haemorrhage ( n = 1) [ 38 ]; pulmonary embolism ( n = 4) [ 35 , 39 – 41 ]; bronchial stenosis ( n = 1) [ 42 ]; and alveolitis ( n = 1) [ 36 ].…”

“…With regards to co-existing autoimmune and/or autoinflammatory diseases, pulmonary involvement was described in patients previously diagnosed with or meeting diagnostic criteria for several conditions: relapsing polychondritis ( n = 33) [ 14 , 19 , 23 , 31 , 41 – 43 ]; ANCA-associated-vasculitis (AAV; n = 1) [ 24 ]; antibody-negative vasculitis ( n = 9) [ 14 ]; IgA-vasculitis ( n = 1) [ 23 ]; systemic lupus erythematosus ( n = 1) [ 21 ]; Sweet syndrome ( n = 2) [ 25 , 44 ]; Behcet’s disease ( n = 1) [ 38 ]. Pulmonary involvement in patients with these co-existing conditions, where described, are summarized in Table 1 .…”

VEXAS Syndrome—Diagnostic Clues for the Dermatologist and Gaps in Our Current Understanding: A Narrative Review

“…VEXAS was initially characterized in a group of 25 adult men ( Beck et al, 2020 ), though there may be important differences in disease presentation in different demographic populations. As of June 2023, 167 distinct morphologic images of the skin and eyes had been published ( Afsahi et al, 2023 ; Alhomida et al, 2021 ; Argobi, 2022 ; Balu et al, 2023 ; Beaumesnil et al, 2022 ; Beck et al, 2020 ; Beecher et al, 2022 ; Bert-Marcaz et al, 2022 ; Ciprian, 2022 ; Collantes-Rodríguez et al, 2023 ; Cordts et al, 2022 ; Dehghan et al, 2021 ; Euvrard et al, 2021 ; Ferrada et al, 2021 ; Goyal et al, 2022 ; Hage-Sleiman et al, 2021 ; Himmelmann and Brücker, 2021 ; Islam et al, 2022 ; Khosravi-Hafshejani et al, 2022 ; Koster et al, 2021 ; Koster and Warrington, 2021 ; Lacombe et al, 2022 ; Lacombe et al, 2021a ; Legeas et al, 2023 ; Loschi et al, 2022 ; Lötscher et al, 2021 ; Magnol et al, 2021 ; Martin-Nares et al, 2022 ; Matsubara et al, 2022 ; Matsuki et al, 2022 ; Matsumoto et al, 2022 ; Mohammed et al, 2023 ; Neupane et al, 2022 ; Nguyen et al, 2022 ; Oganesyan et al, 2021 ; Pàmies et al, 2022 ; Raaijmakers et al, 2021 ; Ribereau-Gayon et al, 2022 ; Shaukat et al, 2022 ; Shimizu et al, 2022 ; Skowron et al, 2023 ; Staels et al, 2021 ; Sterling et al, 2022 ; Stiburkova et al, 2023 ; Takahashi et al, 2021 ; Topilow et al, 2022 ; Tozaki et al, 2022 ; Tsuchida et al, 2021 ; Valor-Méndez et al, 2023 ; van der Made et al, 2022 ; van Leeuwen-Kerkhoff et al, 2022 ;…”

VEXAS Syndrome—A Review of Pathophysiology, Presentation, and Prognosis

“…As of May 2022, fewer than 300 cases have been reported in the literature (Table). 6–10,12–26,30–50 Symptoms in the majority of patients begin around age 55 to 65 years, but onset can range from 40 to 85 years 6,10,13,14 . Geographic and ethnic distributions of VEXAS have not been fully defined.…”

“…As more cases are reported, the variability and spectrum of symptoms at both presentation and during the course of disease are becoming better understood. The most common clinical features associated with VEXAS, based on review of available published cohorts and case series, are listed in the Table, with additional detail of individual case reports further outlined in Supplementary Table 1, http://links.lww.com/RHU/A512 6–10,12–26,30–50 …”