Geometry.Net - Health_Conditions: Tuberous Sclerosis

Tuberous Sclerosis
all photos are unretouched and are patients treated by Dr. Goldberg. TuberousSclerosis facial angiofibromas. single combination Rx - CO2 Dye LASERs.
http://www.pimaderm.com/tuberous_sclerosis.htm

Extractions: all photos are unretouched and are patients treated by Dr. Goldberg Tuberous Sclerosis - facial angiofibromas Before After - 6 weeks Before After Home Botox Psoriasis therapy Hair removal ... Birthmarks [ Tuberous Sclerosis ] Tattoos Brown spot laser removal Stretch marks Acne scars ... Treatment of leg veins
Tuberous Sclerosis
tuberous sclerosis information, links lay advocacy groups and geneticsupport groups. Image that's tuberous sclerosis. tuberous sclerosis
http://www.kumc.edu/gec/support/tuberous.html
Tuberous Sclerosis
collection of generelated information TSC1 TSC2 OMIM catalog of human genes anddisorders Information National tuberous sclerosis Association support and
http://www.ncbi.nlm.nih.gov/disease/TSC.html

Extractions: Two loci for tuberous sclerosis have been found: TSC1 on chromosome 9, and TSC2 on chromosome 16. It took four years to pin down a specific gene from the TSC1 region of chromosome 9: in 1997, a promising candidate was found. Called hamartin by the discoverers, it is similar to a yeast protein of unknown function, and appears to act as a tumor suppressor: without TSC1, growth of cells proceeds in an unregulated fashion, resulting in tumor formation. TSC2 codes for a protein called tuberin, which, through database searches, was found to have a region of homology to a protein found in pathways that regulate the cell (GAP3, a GTPase-activation protein).
Tuberous Sclerosis Complex In Flies Too? CoffeeBreak@NCBI
archives. tuberous sclerosis Complex in flies too? tuberous sclerosiscomplex (TSC) affects as many as 1 in 6000 newborns. Although
http://www.ncbi.nlm.nih.gov/Coffeebreak/CB15_gigas/page.html

Extractions: Tuberous Sclerosis Complex in flies too? Tuberous sclerosis complex (TSC) affects as many as 1 in 6000 newborns. Although named in 1880 for the firm, potato-like nodules that form in the cerebral cortex, few organs escape the benign tumors - hamartomas - that also sprout in the kidneys, lungs, heart, eyes, and skin. The first clinical signs of TSC include seizures, mental retardation, and skin lesions. However, symptoms can be so subtle that they go undetected for many years. One-third of TSC patients inherit a defective copy of either the gene (chromosome 9q34) or the gene (chromosome 16p13.3). The remaining two-thirds acquire the disease by spontaneous mutation of either gene, probably very early in embryonic development. Since no individual lacking functional copies of both genes has ever been found, it is believed that such a condition is lethal to the embryo. The product of the gene, hamartin, shows no overall sequence similarity to any known protein, although it contains an extensive coiled-coil region near its carboxyl end. Coiled-coil domains often provide a binding surface for protein-protein interactions. The TSC2 product - tuberin - is also novel, but shows homology to the GTPase-activating protein (GAP) for Rap1 protein, a Ras superfamily member. Rap1's cellular function is not known, however, many Ras-related proteins help to pass stimulatory signals - from the plasma membrane to the nucleus - that tell a cell when to divide. The GTP-dependent proteins within these signaling cascades can only transmit a signal when in a GTP-bound state. The role of the GAP is to inactivate the signaling protein by hydrolyzing itts bound GTP to GDP. GAPs are therefore critical negative regulators of the Ras-like proteins and thus prevent cells from dividing unchecked.
Tuberous Sclerosis
tuberous sclerosis. Alicia Zukas. According to the Virtual Hospital, otherorgan systems are usually also affected by tuberous sclerosis.
http://serendip.brynmawr.edu/bb/neuro/neuro99/web2/Zukas.html

Extractions: On Serendip Tuberous Sclerosis (TS), or Bourneville disease, covers a broad range of afflictions, but neurologically afflicts 1/6000 newborns in the United States . Its name derives from the "tuber-like growth, on the brain which calcify with age and become hard or sclerotic" . Brain tubers have no distinction between white and gray matter, as indicated by the arrow in the biopsy. TS was first observed by von Recklinshausen in 1862, and was named by Bourneville as tuberous sclerosis in 1880; he described it as a "'tuberous sclerosis of the cerebral circumvolutions' for the unique cerebral pathologic changes he found in the brain of a 15 year-old epileptic and mentally handcapped girl" . The patient's face was also scarred with lesions, now know as facial angiofibroma . By the early 1900's TS was made according to evidence of what is known as the Vogt triad, including seizures, mental retardation, and the facial angiofibroma. It is now known that this triad is not necessarily needed to diagnose TS. The current diagnosis is based upon the following: Multiple ungual fibroma
Tuberous Sclerosis
tuberous sclerosis. Image URL Chronic renal failure, Image URL Tuberosesclerosis, Image URL Tuberose sclerosis, Image URL Tuberose sclerosis,
http://www.brisbio.ac.uk/ROADS/subject-listing/tuberoussclerosis.html

Extractions: A collection of medical, dental and veterinary images for use in teaching. Home About the Archive FAQ Terms and Conditions ... Help Chronic renal failure Tuberose sclerosis Tuberose sclerosis Tuberose sclerosis Tuberose sclerosis and lateral ventricle tumour Tuberose sclerosis of frontal cortex Tuberose sclerosis of frontal lobes Tuberose sclerosis of frontal lobes Tuberose sclerosis of parietal cortex Tuberose sclerosis with tumour in caudate nucleus Tuberose sclerosis with tumour in caudate nucleus Tuberose sclerosis
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AFP February 1, 2000. Recognizing an Index Case of tuberous sclerosis. 3tuberous sclerosis has no predilection for gender or race.
http://www.aafp.org/afp/20000201/703.html

Extractions: Advanced Search A patient information handout on tuberous sclerosis, written by the authors of this article, is provided on page 710. Tuberous sclerosis is the most common neurocutaneous syndrome after neurofibromatosis. Dermatologic manifestations may be the only clues the family physician has to the diagnosis of the disorder, which is also marked by childhood seizures and mental retardation. Characteristic signs of tuberous sclerosis vary widely in severity and can include hypopigmented "ash-leaf spots," fibrous plaques on the forehead, angiofibromas on the face (adenoma sebaceum), a shagreen patch on the lower back and fibromas of the nails. Computed tomographic scanning or magnetic resonance imaging reveal subependymal nodules or cortical "tubers" in the brain. Associated cardiac, retinal, renal and pulmonary pathology can increase morbidity and mortality. Genetic counseling is helpful but has limited use because of the variation in genetic expression and the frequency of new gene mutations that cause this disorder. (Am Fam Physician 2000;61:703-8,710.) T he term "tuberous sclerosis" was first used in 1880 to describe a syndrome consisting of seizures, mental retardation and facial rash in a young girl. However, this complex disorder was initially identified in 1862, and an association between seizures, mental retardation and facial angiofibromas (adenoma sebaceum), referred to as "Vogt's triad," was established in 1908.
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tuberous sclerosis and Your Baby. What is tuberous sclerosis? Tuberoussclerosis What are the signs of tuberous sclerosis? Your doctor
http://www.aafp.org/afp/20000201/20000201b.html

Extractions: Please note: This information was as current as we could make it on the date given above. But medical information is always changing, and some information given here may be out of date. For regularly updated information on a variety of health topics, please visit familydoctor.org , the AAFP patient education Web site. An article on this topic is available in this issue of AFP What is tuberous sclerosis? Tuberous sclerosis causes growths in the brain, eyes, heart, kidney, skin or lungs. These growths are usually benign (not cancer). The first signs may be seizures and spots on the skin. People in the same family who have tuberous sclerosis may have no learning problems or mild learning problems, or they may have serious learning problems, with seizures that are hard to control. Tuberous sclerosis isn't common, but it isn't rare either. Up to 40,000 people in the United States have it. The disorder occurs in both sexes and in people of all races and ethnic groups. How did my child get this disorder?
Tuberous Sclerosis
UCLA, Pediatric Neuropsychiatry Web site
http://www.npi.ucla.edu/PEDSNEUROPSYCH/Tuberous_Sclerosis/tuberous_sclerosis.htm
Tuberous Sclerosis
tuberous sclerosis. Overview Treatment. Definition. Causes, incidence, and riskfactors. tuberous sclerosis is inherited as an autosomal dominant trait.
http://www.npi.ucla.edu/PEDSNEUROPSYCH/Tuberous_Sclerosis/body_tuberous_sclerosi

Extractions: Tuberous Sclerosis Treatment Definition An inheritable disorder characterized by skin lesions , varying degrees of mental retardation , and seizures Causes, incidence, and risk factors Tuberous sclerosis is inherited as an autosomal dominant trait. It is one of a group of diseases described as neurocutaneous syndromes because of extensive involvement of both the skin and the central nervous system (brain and/or spinal cord). The symptoms of tuberous sclerosis, however, vary considerably from minimally affected people with normal intelligence and no seizures to severely affected people with profound retardation and frequent, difficult-to-control seizures. The disease is named after the typical brain lesion which is called a tuber. Severely affected people may develop seizures shortly after birth that are characterized by infantile spasms (hypsarrhythmia). Later seizures tend to be myoclonic. Mental retardation becomes evident as infants begin to miss their normal developmental milestones Several different skin lesions are common in tuberous sclerosis.
TSCTalk - Tuberous Sclerosis Talk Tuberous Sclerosis
TSCTalk tuberous sclerosis web site, for valuable information and supportfor those affected by tsc. tuberous sclerosis Clinics / Genetics.
http://www.tsctalk.com/guests/main.web/20020108105658
TSCTalk
Mailing list and discussion boards for patients and professionals.Category Health Conditions and Diseases tuberous sclerosisTSCTalk tuberous sclerosis web site, for valuable information and support forthose affected by tsc. Home Welcome back to tuberous sclerosis Talk!
http://www.tsctalk.com/
HHMI News: Researchers Closer To Understanding Tuberous Sclerosis
Researchers Closer to Understanding tuberous sclerosis, In tryingto understand tumorigenesis, a great deal of attention has been
http://www.hhmi.org/news/xu2.html

Extractions: "In trying to understand tumorigenesis, a great deal of attention has been paid to the proliferation of cells as an underlying cause," said HHMI investigator Tian Xu. "But our studies of these regulatory proteins suggest that deregulation of organ size may be another important step in tumorigenesis." Researchers have new evidence that may help explain how two genes that are mutated in patients with tuberous sclerosis complex, a genetic disorder that produces widespread benign tumors in the brain, skin, lungs and kidneys, contribute to regulating cell growth and organ size. In an article published in the May 4, 2001, issue of the journal
Tuberous Sclerosis-Koenen's Tumor
Dept. of Dermatology University of Iowa College of Medicine. TuberousSclerosis (Epiloia) - Koenen's Tumor (Subungual fibromata) - Finger.
http://tray.dermatology.uiowa.edu/TubScKT01.htm
Special Child: Disorder Zone Archives - Tuberous Sclerosis
tuberous sclerosis The name, tuberous sclerosis, comes from tuberlike growthsin the brain which calcify with age and become hard, or sclerotic.
http://www.specialchild.com/archives/dz-022.html

Extractions: Matthew Carlos Introduction Tuberous sclerosis (TSC) is a rare genetic disorder that is characterized by benign tumors in vital organs such as the brain, eyes, kidneys, heart and skin. The name, tuberous sclerosis, comes from tuber-like growths in the brain which calcify with age and become hard, or sclerotic. The condition develops before birth, occurs in both males and females, and is seen in all races and ethnic groups. There are 25,000 to 40,000 individuals in the United States with TSC and approximately 1,000,000 worldwide. TSC has an occurrence rate of 1 out of 5,800 live births, although it is believed that there are many undiagnosed cases. TSC is caused by two different defective genes; a defective gene on chromosome 9q34 called TSC1 and a defective gene on chromosome 16p13 called TSC2. Only one of these two genes needs to be affected for the individual to have TSC. One-third of the cases of TSC are hereditary and are autosomal dominant, meaning that only one parent needs to have the defective gene to pass it on to the child. In this case, each child has a 50% chance of inheriting TSC. The other two-thirds are the result of a spontaneous (or new) mutation. A case of TSC was first described by Von Recklinghausen in 1862. In 1880, Bourneville gave a complete description and name to the disorder.
Dna Variation & Function: Dhplc Publication List Sorted By Categories::tuberous
membership or subscription). Please, forward new citations for inclusionin this list to oefner genome.stanford.edu. tuberous sclerosis.
http://insertion.stanford.edu/pub_tuberous_sclerosis.html

Extractions: Home Back DHPLC Publication List (sorted by categories) The DHPLC publication list is also available sorted by publication year The Method Single Nucleotide Extension Sequencing and DHPLC Sensitivity and Specificity DNA/RNA Purification Mutational Analysis of Candidate Genes Mass Spectrometry and DHPLC Quantitation of Gene Expression by DHPLC ... DNA Methylation Analysis The references below are hyper-linked to their abstract via PubMed or, whenever possible, directly to the journal. (Access to journals may require membership or subscription). Please, forward new citations for inclusion in this list to oefner#genome.stanford.edu Tuberous Sclerosis Choy, Y.S., Dabora, S.L., Hall, F., Ramesh, V., Niida, Y., Franz, D., Kasprzyk-Obara, J., Reeve, M.P., Kwiatkowski, D.J. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 63:383-391 Jones, A.C., Sampson, J.R., Hoogendoorn, B., Cohen, D., Cheadle, J.P.
Tuberous Sclerosis
MedHist. AHIS. SEARCH BROWSE ABOUT WHAT'S NEW SUBMIT SITE TRAINING SITE MAP,tuberous sclerosis up. Related topics tuberous sclerosis Association (TSA),
http://omni.ac.uk/browse/mesh/detail/C0041341L0041341.html

Extractions: Tuberous Sclerosis Association (TSA) The Tuberous Sclerosis Association (TSA) was formed in 1977 to offer support to patients and families.The site provides general information about the charity, including activities, fundraising, research projects and publications. There is also information about Tuberous Sclerosis which is updated regularly. Charities Great Britain Tuberous Sclerosis
Tuberous Sclerosis
tuberous sclerosis. An individual with tuberous sclerosis (TS) points her finger,with a periungual fibroma, pointing to a hypopigmented patch of skin.
http://medgen.genetics.utah.edu/photographs/pages/tuberous sclerosis.htm
EMedicine - Tuberous Sclerosis : Article By Rabindranath Nambi, MD, DD, DipNB
tuberous sclerosis tuberous sclerosis is a genetic disorder affecting cellulardifferentiation and proliferation, which results in hamartoma formation in
http://www.emedicine.com/DERM/topic438.htm

Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Last Updated: June 29, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: epiloia, Bourneville disease, tuberous sclerosis complex, TSC AUTHOR INFORMATION Section 1 of 7 Author Information Introduction Clinical Differentials ... Bibliography Author: Rabindranath Nambi, MD, DD, DipNB , Consulting Staff, Department of Dermatology, Dudley Group of Hospitals, UK Editor(s): Eleanor E Sahn, MD , Director of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Van Perry, MD , Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center; Joel M Gelfand, MD , Instructor, Department of Dermatology, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Hospital; and
EMedicine - Tuberous Sclerosis : Article By David Neal Franz, MD
tuberous sclerosis In 1880, Bourneville first described the cerebral manifestationsof this disorder, applying the term sclerose tubereuse to indicate
http://www.emedicine.com/NEURO/topic386.htm

Extractions: document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Last Updated: August 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: tuberous sclerosis complex, Bourneville disease. Bournevilles disease, epiloia, Vogt triad, Vogts triad, angiomyolipoma, lymphangiomyomatosis, polycystic kidney disease, renal cell carcinoma, intractable epilepsy, medically refractory epilepsy, mental retardation, adenoma sebaceum, hamartoma, subependymal nodule, subependymal giant cell astrocytoma AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography

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