Relapsing polychondritis is a rare inflammatory disease characterized by recurrent inflammation of cartilaginous structures, mainly of the ears, nose and respiratory tract, with a broad spectrum of accompanying systemic features. Despite its rarity, prompt recognition and accurate diagnosis of relapsing polychondritis is crucial for appropriate management and optimal outcomes. Our understanding of relapsing polychondritis has changed markedly in the past couple of years with the identification of three distinct patient clusters that have different clinical manifestations and prognostic outcomes. With the progress of pangenomic sequencing and the discovery of new somatic and monogenic autoinflammatory diseases, new differential diagnoses have emerged, notably the vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, autoinflammatory diseases and immune checkpoint inhibitor-related adverse events. In this Review, we present a detailed update of the newly identified clusters and highlight red flags that should raise suspicion of these alternative diagnoses. The identification of these different clusters and mimickers has a direct impact on the management, follow-up and prognosis of patients with relapsing polychondritis and autoinflammatory syndromes.

复发性多软骨炎是一种罕见的炎症性疾病，其特征是软骨结构（主要是耳、鼻和呼吸道）的复发性炎症，具有广泛的伴随全身特征。尽管复发性多软骨炎很罕见，但及时识别和准确诊断对于适当的治疗和最佳结果至关重要。在过去几年中，我们对复发性多软骨炎的理解发生了显着变化，确定了具有不同临床表现和预后结果的三个不同的患者群。随着全基因组测序的进展以及新的体细胞和单基因自身炎症性疾病的发现，新的鉴别诊断不断出现，特别是空泡、E1酶、X连锁、自身炎症、体细胞（VEXAS）综合征、自身炎症性疾病和免疫检查点抑制剂相关不良事件。在这篇综述中，我们提供了新发现的集群的详细更新，并强调了可能引起对这些替代诊断怀疑的危险信号。这些不同簇和模仿者的识别对复发性多软骨炎和自身炎症综合征患者的治疗、随访和预后有直接影响。