Abstract：
Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet\'s syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.
摘要：
复发性多软骨炎是一种罕见的多系统疾病，涉及软骨和蛋白聚糖丰富的结构。这种疾病的诊断主要是由软骨炎症的耀斑的存在，尤其是耳朵,鼻子或呼吸道，更罕见的是，在存在其他表现的情况下。临床表现的范围可能会有所不同，从间歇性的疼痛发作和经常毁容的耳廓和鼻软骨炎，偶尔的器官或甚至危及生命的表现，如下气道塌陷。人们对这种疾病缺乏认识主要是由于它的稀有性。2020年，VEXAS(空泡，E1酶，X-linked,自身炎症,躯体)综合征，一种新的自身炎症综合征，被描述。VEXAS综合征归因于UBA1的蛋氨酸-41中的体细胞突变，UBA1是引发泛素化的主要E1酶。这种新的疾病实体将看似无关的疾病联系起来：全身性炎症综合征（复发性软骨炎，甜蜜综合症，和嗜中性皮肤病）和血液系统疾病（骨髓增生异常综合征或多发性骨髓瘤）。因此,本文回顾了目前关于这两种疾病实体的文献。
