shagreen$74263$ - перевод на греческий
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shagreen$74263$ - перевод на греческий

RARE MULTISYSTEM GENETIC DISEASE THAT CAUSES BENIGN TUMORS TO GROW IN THE BRAIN AND ON OTHER VITAL ORGANS
Tuberous Sclerosis; Bourneville-Pringle disease; Bourneville's disease; Tuberous scelerosis; Tuberous Scelerosis; Sclerosis tuberosa; T.S.C.; Tuberous sclerosis complex; Bourneville disease; Bourneville phakomatosis; Shagreen lesions; Epiloia; Bourneville-Pringle syndrome; Tuberous Sclerosis, type 1; Tuberous Sclerosis, type 2; Intraepithelial epithelioma; Subependymal nodule; Tuberous sclerosis type 2; Tuberous sclerosis type 1; Bourneville–Pringle disease; Tuberous Sclerosis Complex
  • Computed tomography showing multiple angiomyolipomas of the kidney in a patient with lung lymphangioleiomyomatosis on CT: suspected TSC
  • TSC is inherited in an [[autosomal dominant]] fashion.
  • [[Désiré-Magloire Bourneville]]
  • From top to bottom: Hypopigmented macules, Shagreen patch and periungual fibroma of tuberous sclerosis.
  • A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern.
  •  publisher = Mac Keith Press }}</ref>
  • TSC in MRI

shagreen      
n. σπειρωτό δέρμα, δέρμα σαγρέ, σαγρές

Определение

shagreen
[?a'gri:n]
¦ noun
1. sharkskin used for decoration or as an abrasive.
2. untanned leather with a rough granulated surface.
Origin
C17: var. of chagrin in the sense 'rough skin'.

Википедия

Tuberous sclerosis

Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.

TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation.

Prognosis is highly variable and depends on the symptoms, but life expectancy is normal for many.

The prevalence of the disease is estimated to be 7 to 12 in 100,000. The disease is often abbreviated to tuberous sclerosis, which refers to the hard swellings in the brains of patients, first described by French neurologist Désiré-Magloire Bourneville in 1880.