Bourneville Disease, also known as tuberous sclerosis complex (TSC), is a rare genetic disorder characterized by the development of noncancerous tumors in various organs throughout the body. Derived from the name of the French doctor Désiré-Magloire Bourneville, who was one of the first physicians to describe the condition in 1880, Bourneville Disease primarily affects the brain, skin, kidneys, heart, and lungs.
The hallmark of Bourneville Disease is the formation of benign growths called tubers in the brain. These tubers often cause seizures, intellectual disabilities, developmental delays, and behavioral issues. Additionally, individuals with Bourneville Disease may exhibit a distinct pattern of red or light-colored growths on their skin, known as adenoma sebaceum.
Aside from brain and skin involvement, Bourneville Disease can affect other organs. Renal cysts and tumors are frequently observed, leading to the potential development of kidney failure. Cardiac rhabdomyomas, benign tumors in the heart muscle, may cause arrhythmias or other heart problems. Pulmonary issues, such as the formation of cysts or tumors within the lungs, can also be associated with the disease.
Bourneville Disease is an inherited condition caused by mutations in certain genes, including TSC1 and TSC2. These genes are responsible for regulating cell growth and proliferation. However, the severity and manifestations of the disease can vary widely between affected individuals, even within the same family.
There is currently no cure for Bourneville Disease, but medical interventions focus on managing symptoms and complications associated with the condition. Multidisciplinary care involving multiple medical specialists is often necessary to provide comprehensive treatment for individuals with Bourneville Disease.
