诊断学理论与实践2026，Vol.25Issue(4)：500-505,6.DOI:10.16150/j.1671-2870.2026.04.014
TSC2基因变异引起的结节性硬化症多学科诊疗分析1例报告及文献复习
Multidisciplinary diagnosis and treatment analysis of a case of tuberous sclerosis complex caused by a TSC2 gene variant
摘要
Abstract
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 multidis-ciplinary 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 manage-ment of patients with TSC will be crucial for improving the diagnosis and treatment of TSC and patient prognosis,and repre-sents a trend in the treatment of this disease.关键词
结节性硬化症/基因突变/多学科Key words
Tuberous sclerosis complex/Gene mutation/Multidisciplinary分类
医药卫生引用本文复制引用
吴明明,王刚,问雅琦,陈小英..TSC2基因变异引起的结节性硬化症多学科诊疗分析1例报告及文献复习[J].诊断学理论与实践,2026,25(4):500-505,6.基金项目
晋阳皮肤病除湿学术流派项目 （）
