tuberous sclerosis
Sign in to saveAlso known as Bourneville's disease, cerebral sclerosis, epiloia, adenoma sebaceum syndrome, ts - tuberous sclerosis, TSC, tuberose sclerosis, tuberous sclerosis syndrome (disorder)
rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs
Key facts
- Other names
- Tuberous sclerosis complex (TSC), Bourneville disease, Bourneville-Pringle disease
- Specialty
- Neurology , medical genetics
- Prognosis
- normal life expectancy
- Frequency
- 7 to 12 per 100,000
via Wikipedia infobox
Research
12,431 papers- Tuberous Sclerosis Complex: A Review.Pediatric annals · 2017
- Tuberous sclerosis complex.Handbook of clinical neurology · 2018
- Tuberous sclerosis.Lancet (London, England) · 2008
- Tuberous Sclerosis Complex (TSC): Renal and Extrarenal Imaging.Academic radiology · 2022
- Tuberous sclerosis complex.Handbook of clinical neurology · 2015
via PubMed
~27 min read
Encyclopedic overview
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disorder that causes the growth of benign tumors in various organs, including the brain, kidneys, heart, liver, eyes, lungs, and skin. Symptoms may include seizures, intellectual disability, and developmental delay.
TSC has autosomal dominant inheritance, meaning a child with TSC either has one affected parent (about 1/3 of cases) or a spontaneous (de novo) mutation (about 2/3 of cases). It is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively. TSC2 mutations are more frequent and have usually more severe symptoms. These proteins act as tumor growth suppressors, regulating cell proliferation and differentiation. Without them, tumors are more likely to appear.
Excerpted from Wikipedia’s “tuberous sclerosis” article, available under the CC BY-SA 4.0 licence.