Posch Christian, Kaulfersch Wilhelm, Rappersberger Klemens
Department of Dermatology and Venereology, Rudolfstiftung Hospital, Vienna, AustriaDepartment of Pediatrics and Adolescent Medicine, General Hospital of Klagenfurt, Klagenfurt, Austria.
Pediatr Dermatol. 2014 Mar-Apr;31(2):228-31. doi: 10.1111/j.1525-1470.2012.01812.x. Epub 2012 Aug 14.
Cryopyrin-associated periodic syndromes (CAPS) are characterized by apparently unprovoked attacks of fever, rashes, and musculoskeletal and sensorineural inflammation accompanied by high acute-phase reactants. Excessive interleukin-1 (IL-1) signaling appears to be a constant feature in the pathomechanism of the disease, driven by a gain-of-function mutation in the NLRP3 gene. Herein, we present the case of a 9-month-old boy with recurrent nonpruritic rashes and episodes of fever. The difficulties of early diagnosis due to initially mild clinical symptoms and the dramatic response to anti-IL-1 therapy after diagnosis emphasize the practical relevance of considering CAPS as a differential diagnosis in these patients.
冷吡啉相关周期性综合征（CAPS）的特征是出现不明原因的发热、皮疹、肌肉骨骼和感觉神经炎症发作，并伴有高急性期反应物。白细胞介素-1（IL-1）信号过度似乎是该疾病发病机制中的一个恒定特征，由NLRP3基因的功能获得性突变驱动。在此，我们报告一例9个月大男孩，反复出现无瘙痒性皮疹和发热发作。由于最初临床症状较轻导致早期诊断困难，以及诊断后对抗IL-1治疗的显著反应，强调了在这些患者中将CAPS作为鉴别诊断的实际意义。
