Tuberous sclerosis
A genetic disorder characterized by seizures, skin differences, benign tumors (tubers) that harden as the patient gets older, and developmental delays. Many children with tuberous sclerosis have autistic-like symptoms. Diagnosis is by observation of symptoms, particularly seizures combined with white spots on the skin that are most easily seen under ultraviolet light. Two genes associated with tuberous sclerosis have been found, one on chromosome 9, and one on chromosome 16, but genetic testing is not yet available. No treatment specifically for tuberous sclerosis is available, but surgery and medication can minimize associated problems.

* * *

tuberous sclerosis n an inherited disorder of the skin and nervous system that is characterized typically by epilepsy and mental retardation, by a rash of the face resembling acne, and by multiple noncancerous tumors of the brain, kidney, retina, and heart and that is controlled by an autosomal dominant gene maintained in human populations by a high mutation rate called also epiloia

* * *

a hereditary disorder in which the brain, skin, and other organs are studded with small plaques or tumours; eye involvement includes retinal tumours, optic nerve gliomas, and eyelid neuromas. Symptoms include epilepsy, mental retardation, and behavioural disorders.

* * *

(TSC) see under complex.

Medical dictionary. 2011.

Look at other dictionaries:

  • tuberous sclerosis — tuberous sclerosis. См. эпилойя. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Tuberous sclerosis — Infobox Disease Name = Tuberous sclerosis Caption = Earliest illustration, from Rayer s atlas of skin diseases, 1835. DiseasesDB = 13433 ICD10 = ICD10|Q|85|1|q|80 ICD9 = ICD9|759.5 ICDO = OMIM = 191100 MedlinePlus = 000787 eMedicineSubj = neuro… …   Wikipedia

  • tuberous sclerosis — Autosomal dominant disorder caused by mutation in tumour suppressor genes TSC1 or TSC2. Disease characterized by range of features including seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC1 encodes hamartin,… …   Dictionary of molecular biology

  • tuberous sclerosis — Bourneville s disease; = epiloia a hereditary disorder in which the brain, skin, and other organs are studded with small plaques or tumours; eye involvement includes retinal tumours, optic nerve gliomas, and eyelid neuromas. Symptoms include… …   The new mediacal dictionary

  • tuberous sclerosis — A genetic disorder in which benign (noncancerous) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions …   English dictionary of cancer terms

  • tuberous sclerosis — noun : epiloia …   Useful english dictionary

  • tuberous sclerosis complex — an autosomal dominant disorder caused by mutation in either of two genes, the TSC1 gene (locus: 9q34), which encodes hamartin, or the TSC2 gene (locus: 16p13), which encodes tuberin; the two proteins are involved in tumor suppression; although… …   Medical dictionary

  • Timeline of tuberous sclerosis — The timeline of tuberous sclerosis discovery and research spans less than 200 years. Tuberous sclerosis (TSC) is a rare, multi system genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys,… …   Wikipedia

  • Склероз Туберозный (Tuberous Sclerosis), Эпилойя (Epiloid) — наследственное заболевание, характеризующееся появлением множественных мелких бляшек или опухолей на поверхности кожи, а также в головном мозге и других органах. Основными проявлениями заболевания являются эпилепсия и задержка умственного… …   Медицинские термины

  • Sclerosis — or sclerotization is a hardening of tissue and other anatomical featuresIn medicine*Amyotrophic lateral sclerosis sometimes known as Lou Gehrig s disease, a progressive, incurable, usually fatal disease of motor neurons. Scientist Stephen Hawking …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”