本文报道1例由TSC2基因变异引起的结节性硬化症（tuberous sclerosis，TSC）患者。该患者为26岁男性，全身出现丘疹、结节、肿块20余年，且2岁时曾有癫痫发作史。体检见其颈面部、胸背部密集泛发大小不等的丘疹、结节和肿块。皮损组织病理学检查示，表皮轻度乳头瘤样增生，表皮角化过度，真皮小血管少量淋巴细胞。影像学检查提示颅内、肺部、肾脏结节样及团状异常信号；基因检测示TSC2基因17号外显子信号下降，提示该位点存在致病的杂合缺失。综合以上特征，诊断该患者为复合性TSC。经多学科团队讨论后，给予多学科团队协同治疗、管理，皮肤科行激光治疗；整形科手术治疗；泌尿外科、肿瘤科、神经外科药物治疗，治疗过程顺利。患者出院后门诊持续随访，截至2025年1月已随访1年，病情稳定。复习中国知网、万方及PubMed和Embase数据库，共收集多学科诊治的多发性硬化症者19例，加上本文患者1例，共20例，所有患者均累及2个脏器以上。未来多学科协作对TSC患者进行终身的疾病管理，是提升该病的诊疗技术水平、改善患者预后的关键所在，也是本病治疗的趋势。

This article reports a case of tuberous sclerosis (TSC) caused by a TSC2 gene variant. A 26-year-old male patient presented with widespread papules, nodules, and masses all over the body for over 20 years. The patient had a history of epileptic seizures at the age of 2. Dermatological examination showed densely distributed papules, nodules, and masses of varying sizes on the neck, face, chest, and back. Histopathological examination of the skin lesions showed mild papillomatoid hyperplasia of the epidermis, hyperkeratosis, and a small number of lymphocytes around the dermal blood vessels. Imaging studies indicated nodular and mass-like abnormal signals in the brain, lungs, and kidneys. Genetic testing revealed a decreased signal in exon 17 of the TSC2 gene, suggesting the presence of a pathogenic heterozygous deletion variant at this locus. Based on the above characteristics, the patient was diagnosed with tuberous sclerosis complex. After discussion by the multidisciplinary team (MDT), coordinated multidisciplinary treatment and management were provided. The dermatology department performed laser therapy, and the plastic surgery department conducted surgical treatment. The departments of urology, oncology, and neurosurgery provided pharmacological treatment. The treatment process proceeded smoothly. After discharge, the patient continued to be followed up at the outpatient clinic. As of January 2025, the patient had been followed up for one year and remained clinically stable. A review of the China National Knowledge Infrastructure, Wanfang Data, PubMed, and Embase databases identified 19 patients with tuberous sclerosis who had undergone multidisciplinary diagnosis and treatment. Including the patient reported in this article, a total of 20 cases were identified, and all patients had involvement of two or more organs. In the future, multidisciplinary collaboration in the lifelong disease management of patients with TSC will be crucial for improving the diagnosis and treatment of TSC and patient prognosis, and represents a trend in the treatment of this disease.