|
HealthTales.com |
|
| Index of Diseases and Conditions: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z |
Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant medical problems.
The signs and symptoms of tuberous sclerosis vary according to the location of tumor growth. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face (facial angiofibromas) are also common, beginning in childhood. Many people with tuberous sclerosis have noncancerous brain tumors. Neurologic symptoms can include seizures, behavioral problems such as hyperactivity and aggression, and mental retardation or learning disabilities. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Kidney tumors are also common in people with tuberous sclerosis; these growths can cause serious problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).
Tuberous sclerosis affects about 1 in 6,000 people.
Mutations in the TSC1 and TSC2 genes cause tuberous sclerosis.
The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely function together as a protein complex that helps regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way. Mutations in either the TSC1 or TSC2 gene lead to the production of a nonfunctional version of hamartin or tuberin. As a result, cells can divide excessively to form the numerous tumors associated with tuberous sclerosis.
Tuberous sclerosis is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About two thirds of cases result from new mutations in the TSC1 or TSC2 gene. These cases occur in people with no history of tuberous sclerosis in their family. In the remaining cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis, while mutations in the TSC2 gene tend to occur more frequently in affected individuals with no family history of the disorder.
'''Tuberous sclerosis''', (meaning "hard potatoes") is a rare genetic, disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called adenoma sebaceum). This "classic" Vogt triad is present in 30-50% of cases; in particular, up to 30% of tuberous sclerosis reportedly have normal mentation. Tuberous sclerosis, along with Neurofibromatosis type I, Neurofibromatosis type II (a.k.a. MISME syndrome), Sturge-Weber, and von Hippel-Lindau disease compromise the phakomatosis or neurocutaneous syndromes, all of which have neurologic and dermatologic lesions. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood. The neuropathologic findings of the cortical "tubers" (''sclerose tubereuse'') was first described by Bourneville in 1880. Individuals with tuberous sclerosis may experience none or all of the symptoms with varying degrees of severity. Tuberous sclerosis is a multi-system disease that can affect the brain, kidneys, heart, eyes, lungs, and other organs. Small benign tumors may grow on the face and eyes, as well as in the brain, kidneys, and other organs. Brain imaging studies may be able to confirm the diagnosis. Seizures most often begin in the first year of life. Tuberous sclerosis' acronym is T.S.C. (Tuberous sclerosis complex) so as to avoid confusion with Tourette's Syndrome. May is designated National Tuberous Sclerosis Awareness month.
The Sweetest Sound: The Miracle of Taylor Hess - The Hess family must come to grips with the reality that their daughter has Tuberous Sclerosis.
Team Ninja - DC with a twist - This is the home of Team Ninja, a team that pursues distributed computing projects. We currently work on: Distributed Folding Tuberous Sclerosis Complex (TSC)
The Rothberg Institute: The CommunityTSC Project - Help make drugs to treat patients with TSC, tuberous sclerosis.
Tuberous Sclerosis Association - UK charity supporting sufferers, promoting awareness, and seeking the causes and best possible management of this genetic disease. Resources for patient families and information on this condition.
Tuberous Sclerosis - Lisa's Site - An incurable genetic condition that causes tumors to grow in various places in the body.
Children's Hospital Medical Center of Cincinnati Tuberous Sclerosis Program - Organized in 1993 to assist in the medical care of children and adults with tuberous sclerosis.
Tuberous Sclerosis Hub - A brief definition of, followed by links to overviews, research articles, case reports and images.
Tuberous Sclerosis - A short information sheet on this disease compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Kolten's Tuberous Sclerosis Page - Kolten's story about living with this disease. The daily seizures that took over his life and the amazing surgery that gave it back to him.
National Library of Medicine - A list of synonyms, a summary and major features of tuberous sclerosis.