Tuberous sclerosis Updated: 11/01/2021 © Jun Wang, MD, PhD General features Autosomal dominant syndrome De novo mutation of TSC1 or TSC2 may be seen in sporadic cases Affecting differentiation, proliferation, and migration early in development Increased risk of malignancy Clinical presentations Variety of hamartomatous lesions Commonly involve multiple organs Brain: Tubers, subependymal nodules, subependymal giant cell astrocytomas (SEGAs), may cause seizures Heart: Rhabdomyoma Skin: Ash-leaf spots , adenoma sebaceum, shagreen patch Eyes: Retinal astrocytomas Kidney: Polycystic kidney, renal cyst , renal angiomyolipoma , renal cell carcinoma Lung: Lymphangioleiomyomatosis , causing dyspnea and pneumothorax Liver: Cyst, angiomyolipomas Genetic abnormalities TSC1 TSC2 Work ups Laboratory studies: Genetic mutations Imaging studies: Tumors of brain, kidney, heart, etc Electroencephalography: If seizures are suspected Electrocardiography: A...