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Can I read Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement on EtoBox?
Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement by Felipe Mussi von Ranke; Gláucia Zanetti; Jorge Luiz Pereira e Silva; Cesar Augusto Araujo Neto; Myrna C. B. Godoy; Carolina A. Souza; Alexandre Dias Mançano; Arthur Soares Souza; Dante Luiz Escuissato; Bruno Hochhegger; Edson Marchiori is a Medicine article available to read on EtoBox.
What is Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement about?
Tuberous 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%
Who reads Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Felipe Mussi von Ranke; Gláucia Zanetti; Jorge Luiz Pereira e Silva; Cesar Augusto Araujo Neto; Myrna C. B. Godoy; Carolina A. Souza; Alexandre Dias Mançano; Arthur Soares Souza; Dante Luiz Escuissato; Bruno Hochhegger; Edson Marchiori
- Publisher
- Springer Science and Business Media LLC
- Published
- 2015
- Language
- EN
- Field
- Medicine (Health Sciences)