Cite this page: Pernick N. tuberous sclerosis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/kidneytumortubsclerosis.html. Accessed January 18th, 2020.
Definition / general
- Autosomal dominant disorder characterized by hamartomas / tumors of brain (subependymal giant cell tumor), retina, skin (cutaneous angiofibromas), heart (rhabdomyoma), bone, lung (lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia) and kidney (angiomyolipoma in 40 - 80%, cysts, renal cell carcinoma [but some epithelioid tumors may be misclassified])
- Caused by alterations of TSC1 gene (9q34, encodes hamartin) and TSC2 gene (16p13.3, encodes tuberin, which interacts with hamartin)