Tuberous sclerosis historical perspective
|
Tuberous sclerosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Tuberous sclerosis historical perspective On the Web |
|
American Roentgen Ray Society Images of Tuberous sclerosis historical perspective |
|
Risk calculators and risk factors for Tuberous sclerosis historical perspective |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Historical Perspective
Tuberous Sclerosis was described as a specific disease in the 19th century, being initially referred to adenoma sebaceum, epiloia, Pringle's disease or Bourneville's disease. Rayer, a French dermatologist, was the one to first describe the disease and the fibrovascular papules that characterize it, making illustrations of it. He described two cases of tuberous sclerosis in patients who had the nasolabial papular eruption with telangiectasias at the base. In 1850 the first written report of tuberous sclerosis appeared in "Vitiligoidea", published by Addison and Gull. It was not recognized as a distinct disease but was classified as "vitiligoidea tuberosa". In 1862, von Recklinghausen reported a tumor of the heart found in a newborn during autopsy, and by that he is credited to be the first that described the microscopic appearance of tuberous sclerosis. Bourneville in 1880, a French neurologist, described the case of a girl who presented at the age of 3 with facial eruption and died at 15 years of age due to epilepsy, which complicated with pneumonia and inanition. He found brain and kidney tumors on the autopsy which were correctly believed to be the cause of her seizures and mental retardation. In 1911, E. B. Sherlock, superintendent of Belmont Asylum of Idiots, London, coined the word "epiloia" that indicated a clinical triad of epilepsy, low intelligence and adenoma sebaceum.[1]
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 TSC.
References
- ↑ Morgan, J. Elizabeth, and Francis Wolfort. "The early history of tuberous sclerosis." Archives of dermatology 115.11 (1979): 1317-1319.