| ［1］ |
Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex［J］. QJM, 2019,112（3）:171⁃182. doi: 10.1093/qjmed/hcy215.
|
| ［2］ |
中国抗癌协会泌尿男生殖系肿瘤专业委员会结节性硬化协作组. 结节性硬化症相关肾血管平滑肌脂肪瘤诊疗与管理专家共识［J］. 中国癌症杂志, 2020,30（1）:70⁃78. doi: 10.19401/j.cnki.1007⁃3639.2020.01.009.
|
| ［3］ |
Hong CH, Tu HP, Lin JR, et al. An estimation of the incidence of tuberous sclerosis complex in a nationwide retrospective cohort study （1997-2010）［J］. Br J Dermatol, 2016,174（6）:1282⁃1289. doi: 10.1111/bjd.14415.
|
| ［4］ |
Portocarrero L, Quental KN, Samorano LP, et al. Tuberous sclerosis complex: review based on new diagnostic criteria［J］. An Bras Dermatol, 2018,93（3）:323⁃331. doi: 10.1590/abd1806⁃4841.20186972.
|
| ［5］ |
刘林莉, 严高武, 邓玲俐, 等. 典型结节性硬化症1例临床表型及基因变异分析［J］. 中华皮肤科杂志, 2022,55（8）:713⁃716. doi:10.35541/cjd.20210541.
|
| ［6］ |
Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference［J］. Pediatr Neurol, 2013,49（4）:243⁃254. doi: 10.1016/j.pediatrneurol.2013. 08.001.
|
| ［7］ |
孙新芬, 方丽. 结节性硬化症20例分析［J］. 中华皮肤科杂志, 1997,30（6）:380⁃382.
|
| ［8］ |
Kondo S, Yamashina U, Sato N, et al. Discordant expression of tuberous sclerosis in monozygotic twins［J］. J Dermatol, 1991,18（3）:178⁃180. doi: 10.1111/j.1346⁃8138.1991.tb03063.x..
|
| ［9］ |
Lyczkowski DA, Conant KD, Pulsifer MB, et al. Intrafamilial phenotypic variability in tuberous sclerosis complex［J］. J Child Neurol, 2007,22（12）:1348⁃1355. doi: 10.1177/0883073807307093.
|
| ［10］ |
Gushiken BJ, Callen PW, Silverman NH. Prenatal diagnosis of tuberous sclerosis in monozygotic twins with cardiac masses［J］. J Ultrasound Med, 1999,18（2）:165⁃168. doi: 10.7863/jum.1999. 18.2.165.
|
| ［11］ |
Humphrey A, Higgins JN, Yates JR, et al. Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits［J］. Neurology, 2004,62（5）:795⁃798. doi: 10.1212/01.wnl.0000113745.58425.ef.
|
| ［12］ |
Zhen L, Guo J, Jiang F, et al. Prenatal phenotypic discordance in monozygotic twins due to a postzygotic TSC2 variant［J］. Prenat Diagn, 2021,41（2）:207⁃209. doi: 10.1002/pd.5850.
|
| ［13］ |
王艺, 周浩. 结节性硬化症的遗传学机制研究进展［J］. 中华实用儿科临床杂志, 2015,30（24）:1841⁃1844. doi: 10.3760/cma.j.issn.2095⁃428X.2015.24.001.
|
| ［14］ |
王欣, 赵林, 杨振朋. 皮肤镜联合头部计算机断层扫描和磁共振成像对结节性硬化症的诊断价值［J］. 临床皮肤科杂志, 2023,52（3）:146⁃148. doi: 10.16761/j.cnki.1000⁃4963.2023.03. 005.
|
| ［15］ |
Behera B, Kumari R, Gochhait D, et al. Dermoscopy of adenoma sebaceum［J］. J Am Acad Dermatol, 2017,76（2S1）:S86⁃S88. doi: 10.1016/j.jaad.2016.05.023.
|
| ［16］ |
Jindal R, Sethi S, Chauhan P. Dermoscopy of facial angiofi⁃bromas in four patients of skin of color with tuberous sclerosis complex: a case⁃series［J］. Dermatol Pract Concept, 2021,11（3）:e2021036. doi: 10.5826/dpc.1103a36.
|
| ［17］ |
阮叶平,赵肖庆,郑捷,等. 结节性硬化症1例［J］. 中华皮肤科杂志, 2022,55（3）:251⁃252. doi:10.35541/cjd.20200209.
|
| ［18］ |
MacKeigan JP, Krueger DA. Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex［J］. Neuro Oncol, 2015,17（12）:1550⁃1559. doi: 10. 1093/neuonc/nov152.
|
| ［19］ |
Tyburczy ME, Dies KA, Glass J, et al. Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing［J/OL］. PLoS Genet, 2015,11（11）:e1005637. doi: 10.1371/journal.pgen. 100 5637.
|
