Definition
First described by a French neurologist Désiré-Magloire Bourneville in 1880, tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare autosomal dominant genetic neurocutaneous disorder characterized by seizures, neuropsychiatric symptoms, hamartomatous growth of normal tissue, and tumors in variable sites of the body including brain, kidney, heart, liver, eye, lung, and skin. The clinical manifestations and their severity are dependent on the size and location of the growths as well as the degree of neuropsychiatric symptoms. The name tuberous sclerosis is derived from the characteristic “tuber” (or potato-like) nodules which develop as a result of the disease; these nodules can become very hard or “sclerotic.”
Clinical Features
According to the 2012 International Tuberous Sclerosis Complex Consensus Group, there are 11 major and 6...
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References and Further Reading
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Pakbaz, S., Hodgson, A., Mete, O. (2020). Tuberous Sclerosis. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5333-1
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