156 Cutaneous spectrum of VEXAS syndrome
نویسندگان
چکیده
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly described disease due to somatic mutations in UBA1, encoding ubiquitin-activating enzyme 1. Patients with have hematologic features, such as macrocytic anemia and myelodysplastic syndrome, systemic inflammation, including cutaneous involvement. Our aim was characterize the spectrum of skin manifestations large cohort patients VEXAS. 87 males 1 female genetically confirmed were included this retrospective study. Mean age at onset 64 years (range 39-78). Most (n=71, 81%) had Initial presentation confined 16 (18.2%) or features 19 (21%) patients. Skin lesions painful/tender (n=15, 21.1%) pruritic (n=13, 18.3%), characterized by erythema (n=20, 28.2%) nodules (n=17, 23.9%), occurred most frequently an acral distribution (n=25, 35.2%). 110 biopsies performed 45 interpreted small medium vessel vasculitis (n=29, 26.4%), Sweet (n=24, 21.8%), connective tissue (n=9, 8.2%), nodosum (n=7, 6.4%). Histologic review 11 cases identified neutrophilic predominance (n=6, 54.5%) epidermis (n=2, 18.2%), papillary dermis reticular (n=5, 45.5%). improved glucocorticoids 85.5% (n=47/55), but relapse after tapering common (60%, n=33/55). Severe injection site reactions anakinra frequent (64.3%, n=9/14). are common, early feature share similarities clinical histologic other inflammatory disease. Appreciation findings will facilitate diagnosis.
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2022
ISSN: ['1523-1747', '0022-202X']
DOI: https://doi.org/10.1016/j.jid.2022.05.163