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罕见病研究:面部肉芽肿合并多发性大动脉炎1例
廖威, 龙娟, 汤建萍, 呙丹妮, 树叶, 韦祝
中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (10) : 1266-1270.
PDF(885 KB)
PDF(885 KB)
罕见病研究:面部肉芽肿合并多发性大动脉炎1例
Granuloma faciale and Takayasu arteritis in a child: a case report
男性患儿,11岁,因双侧下颌、颏部红色斑块2年,咳嗽气促2个月余就诊。胸部计算机体层成像血管造影提示右肺动脉明显狭窄,主动脉粗细不均及管壁增厚。皮肤活检结合免疫组织化学、特殊染色结果符合皮肤慢性化脓性炎症。全外显子组测序阴性。最终患儿诊断为面部肉芽肿、多发性大动脉炎。在托珠单抗、泼尼松、氨甲蝶呤系统治疗及0.1%他克莫司软膏外用的联合治疗下,取得了良好的临床效果。该文总结了1例面部肉芽肿合并多发性大动脉炎患儿的临床资料,对其病因、诊断、最新治疗方法进行归纳总结,为临床医生诊断该类罕见疾病提供思路。
An 11-year-old boy presented with erythematous plaques over the bilateral mandibular and mental regions for 2 years, accompanied by cough and dyspnea for more than 2 months. Chest computed tomography angiography revealed marked stenosis of the right pulmonary artery, irregular aortic caliber, and aortic wall thickening. Histopathological examination of the skin lesion, including immunohistochemistry and special stains, confirmed a chronic suppurative inflammation. Whole-exome sequencing was negative. A final diagnosis of granuloma faciale and Takayasu arteritis was established. Combination therapy with systemic tocilizumab, prednisone, and methotrexate, along with topical 0.1% tacrolimus ointment, resulted in a favorable clinical response. This report summarizes the clinical features of a pediatric case of granuloma faciale and Takayasu arteritis and reviews the etiology, diagnostic approach, and current treatment strategies for the disorders, aiming to enhance clinicians' understanding of these conditions.
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