History
Tuberous sclerosis first came to medical attention when dermatologists described the distinctive facial rash (1835 and 1850). A more complete case was presented by von Recklinghausen (1862) who identified heart and brain tumours in a newborn that had only briefly lived. However, Bourneville (1880) is credited with having first characterized the disease, coining the name tuberous sclerosis, thus earning the eponym Bourneville's disease. The neurologist Vogt (1908) established a diagnostic triad of epilepsy, idiocy, and adenoma sebaceum (an obsolete term for facial angiofibroma).
Symptoms were periodically added to the clinical picture. The disease as presently understood was first fully described by Gomez (1979). The invention of medical ultrasound, CT and MRI has allowed physicians to examine the internal organs of live patients and greatly improved diagnostic ability.
Two genetic loci associated with tuberous sclerosis, TSC1 and TSC2, were discovered in 1997 and 1992 respectively. This has enabled the use of genetic testing as a diagnostic tool. The proteins associated with TSC1 and TSC2, harmartin and tuberin, function as a complex in the mTOR signalling pathway that controls cell growth and cell division. The importance of this pathway in cancer therapy has stimulated further research into Tuberous Sclerosis.
In 2002, treatment with rapamycin was found to be effective at shrinking tumours in animals. This has led to human trials of rapamycin as a drug to treat several of the tumors associated with Tuberous Sclerosis.
Read more about this topic: Tuberous Sclerosis
Famous quotes containing the word history:
“If man is reduced to being nothing but a character in history, he has no other choice but to subside into the sound and fury of a completely irrational history or to endow history with the form of human reason.”
—Albert Camus (1913–1960)
“In all history no class has been enfranchised without some selfish motive underlying. If to-day we could prove to Republicans or Democrats that every woman would vote for their party, we should be enfranchised.”
—Carrie Chapman Catt (1859–1947)
“No one can understand Paris and its history who does not understand that its fierceness is the balance and justification of its frivolity. It is called a city of pleasure; but it may also very specially be called a city of pain. The crown of roses is also a crown of thorns. Its people are too prone to hurt others, but quite ready also to hurt themselves. They are martyrs for religion, they are martyrs for irreligion; they are even martyrs for immorality.”
—Gilbert Keith Chesterton (1874–1936)