结节性硬化症（tuberous sclerosis complex，TSC）是一种罕见的多系统先天性疾病，会在脑部、心脏、肾脏、皮肤及其他器官出现良性肿瘤，因此病患可能出现癫痫、发育迟缓或者脸上皮脂腺瘤等症状。 研究显示，雷帕霉素对于结节性硬化症具疗效。 数个研究确定性指出mTOR抑制剂可缓解结节性硬化症，特别是儿童的室管膜下巨细胞星形细胞瘤及成人的血管平滑肌脂肪瘤。美国在进行许多涉及结节性硬化症的雷帕霉素类似物儿童及成人临床试验。

大多数研究已注意到停止治疗后肿瘤将会复发。理论上来说，它可改善如面部血管纤维瘤、儿童多动症及自闭症等结节性硬化症症状，但这些研究还处于动物试验阶段。

Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.