一种常染色体显性神经皮肤性多系统疾病，表现为细胞增殖、组织发育不良及多发性器官错构瘤。
阅读更多已公认的主要神经皮肤性特征包括牙齿凹痕、脱色斑（白色叶斑）、面部血管纤维瘤及指甲纤维瘤。
最经常被发现的临床表现是癫痫（婴儿痉挛）、自闭症与认知障碍及新生儿心脏横纹肌瘤。
心脏横纹肌瘤会在儿童早期消退且通常无症状，而肾血管平滑肌脂肪瘤和巨细胞星形细胞瘤则在青春期和成年期进展。肾脏并发症是仅次于中枢神经系统并发症的一种显著并发症。
与结节性硬化有关的肺淋巴管肌瘤病的独特之处在于它被认为仅发生在女性中，且由 肾血管平滑肌脂肪瘤转移引起。
复合型结节性硬化症 (TSC) 是一种常染色体显性神经皮肤性多系统疾病，表现为细胞增殖、组织发育不良及多发性器官错构瘤。[1]Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.[2]Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5.http://www.ncbi.nlm.nih.gov/pubmed/10815131?tool=bestpractice.com 该病有两个基因位点：TSC1（见于染色体 9q34 上）及 TSC2（见于染色体 16p13 上）。[2]Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5.http://www.ncbi.nlm.nih.gov/pubmed/10815131?tool=bestpractice.com[3]European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305-1315.http://www.ncbi.nlm.nih.gov/pubmed/8269512?tool=bestpractice.com[4]van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-808.http://www.ncbi.nlm.nih.gov/pubmed/9242607?tool=bestpractice.com 临床表型可由其中任何一种突变引起。[5]Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet. 2001;68:64-80.http://www.cell.com/ajhg/fulltext/S0002-9297(07)62472-0http://www.ncbi.nlm.nih.gov/pubmed/11112665?tool=bestpractice.com[6]Cheadle J, Reeve M, Samson J, et al. Molecular genetic advances in tuberous sclerosis. Hum Genet. 2000;62:345-357.http://www.ncbi.nlm.nih.gov/pubmed/11030407?tool=bestpractice.com[7]Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88-100.http://www.ncbi.nlm.nih.gov/pubmed/17304050?tool=bestpractice.com
