• Felipe Mussi von Ranke, Gláucia Zanetti, e SilvaJorge Luiz PereiraJLFederal University of Bahia, Salvador, Brazil., Cesar Augusto Araujo Neto, Myrna C B Godoy, Carolina A Souza, Alexandre Dias Mançano, Arthur Soares Souza, Dante Luiz Escuissato, Bruno Hochhegger, and Edson Marchiori.
• Federal University of Rio de Janeiro, Rua Thomaz Cameron, 438. Valparaiso, Petrópolis, Rio de Janeiro, CEP 25685.120, Brazil.
• Lung. 2015 Oct 1; 193 (5): 619-27.

AbstractTuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disease with high phenotypic variability. The incidence is approximately one in 5000-10,000 births. TSC is characterized by widespread hamartomas and benign or rarely malignant neoplasms affecting various organs, most commonly the brain, skin, retinas, kidneys, heart, and lungs. The wide range of organs affected reflects the roles of TSC1 and TSC2 genes in the regulation of cell proliferation and differentiation. Clinical diagnostic criteria are important because genetic testing does not identify the mutation in up to 25% of patients. Imaging is pivotal, as it allows a presumptive diagnosis of TSC and definition of the extent of the disease. Common manifestations of TSC include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis (LAM), renal angiomyolipoma, and skin lesions. Pulmonary involvement consists of LAM and, less commonly, multifocal micronodular pneumocyte hyperplasia (MMPH), which causes cystic and nodular diseases, respectively. Recent reports indicate that pulmonary LAM is found by computed tomography in up to 35% of the female patients with TSC. MMPH is rare and may be associated with LAM or, less frequently, occurs as an isolated pulmonary manifestation in women with TSC. Dyspnea and pneumothorax are common clinical presentations of LAM, whereas MMPH is usually asymptomatic. The aim of this review is to describe the main clinical, imaging, and pathological aspects of TSC, with a focus on pulmonary involvement.

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