Nguyen Jacqueline K, Routledge David, van Der Weyden Carrie, Blombery Piers, Angel Christopher M, Johnson Daryl, Goh Michelle S, Lee Adriene
Department of Dermatology, St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia.
Department of Clinical Haematology, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Australas J Dermatol. 2022 Nov;63(4):488-492. doi: 10.1111/ajd.13932. Epub 2022 Oct 5.
VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a genetically defined disorder identified in 2020, describing patients with inflammatory syndromes associated with haematological dysfunction. It is a severe, treatment-resistant condition, with estimated mortality between 40% and 63%. A wide range of cutaneous manifestations have been described. Here, we report on two patients with treatment-resistant neutrophilic dermatosis and myelodysplastic syndrome, who were subsequently diagnosed with VEXAS syndrome. Our cases highlight the need for dermatologists' awareness of this novel condition and to initiate early referral to haematologists for appropriate multidisciplinary care.
VEXAS（空泡、E1酶、X连锁、自身炎症性和体细胞突变）综合征是2020年确定的一种基因定义的疾病，描述了伴有血液系统功能障碍的炎症综合征患者。它是一种严重的、难治性疾病，估计死亡率在40%至63%之间。已有多种皮肤表现的描述。在此，我们报告两名患有难治性嗜中性皮病和骨髓增生异常综合征的患者，他们随后被诊断为VEXAS综合征。我们的病例强调皮肤科医生需要了解这种新疾病，并尽早转诊给血液科医生以获得适当的多学科护理。
