Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either the TSC1 or TSC2 gene leading to hyperactivation of the mammalian target of rapamycin (mTOR). TSC is associated with several pulmonary manifestations including lymphangioleiomyomatosis (LAM), multifocal micronodular pneumocyte hyperplasia (MMPH) and chylous effusions. LAM is a multisystem disorder characterised by cystic destruction of lung parenchyma, and may occur in either the setting of TSC (TSC-LAM) or sporadically (S-LAM). LAM occurs in 30–40% of adult females with TSC at childbearing age and is considered a nonmalignant metastatic neoplasm of unknown origin. TSC-LAM is generally milder and, unlike S-LAM, may occur in males. It manifests as multiple, bilateral, diffuse and thin-walled cysts with normal intervening lung parenchyma on chest computed tomography. LAM is complicated by spontaneous pneumothoraces in up to 70% of patients, with a high recurrence rate. mTOR inhibitors are the treatment of choice for LAM with moderately impaired lung function or chylous effusion. MMPH, manifesting as multiple solid and ground-glass nodules on high-resolution computed tomography, is usually harmless with no need for treatment.

结节性硬化症 (TSC) 是一种罕见的多系统遗传疾病，几乎影响所有器官，没有性别优势。TSC 具有常染色体显性遗传，由TSC1或TSC2中的杂合突变引起导致哺乳动物雷帕霉素靶标 (mTOR) 过度活化的基因。TSC 与多种肺部表现相关，包括淋巴管平滑肌瘤病 (LAM)、多灶性小结节性肺细胞增生 (MMPH) 和乳糜积液。LAM 是一种以肺实质囊性破坏为特征的多系统疾病，可能发生在 TSC 的情况下 (TSC-LAM) 或偶发 (S-LAM)。LAM 发生在 30-40% 的育龄期 TSC 成年女性中，被认为是一种来源不明的非恶性转移性肿瘤。TSC-LAM 通常较温和，并且与 S-LAM 不同，它可能发生在男性身上。它表现为多发性、双侧性、弥漫性和薄壁囊肿，胸部计算机断层扫描显示肺实质正常。高达 70% 的 LAM 患者并发自发性气胸，具有很高的复发率。mTOR 抑制剂是具有中度肺功能受损或乳糜积液的 LAM 的治疗选择。MMPH 在高分辨率计算机断层扫描上表现为多个实体和毛玻璃结节，通常无害，无需治疗。