TY - JOUR T1 - Tuberous sclerosis complex for the pulmonologist JF - European Respiratory Review JO - EUROPEAN RESPIRATORY REVIEW DO - 10.1183/16000617.0348-2020 VL - 30 IS - 161 SP - 200348 AU - Yasmine Rebaine AU - Mouhamad Nasser AU - Barbara Girerd AU - Caroline Leroux AU - Vincent Cottin Y1 - 2021/09/30 UR - http://err.ersjournals.com/content/30/161/200348.abstract N2 - 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.Tuberous sclerosis complex is associated with diverse pulmonary manifestations including LAM, multiple micronodular pneumocyte hyperplasia and chylous effusions. LAM occurs in 30–40% of adult females with tuberous sclerosis complex. https://bit.ly/3iLqZ08 ER -