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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.
Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain. [1] It is most commonly associated with tuberous sclerosis complex (TSC).
Mutations in TSC2 can cause Lymphangioleiomyomatosis, a disease caused by the enlargement of tissue in the lungs, creating cysts and tumours and causing difficulty breathing. Because tuberin regulates cell size, along with the protein hamartin, mutations to TSC1 and TSC2 genes may prevent the control of cell growth in the lungs of individuals.
A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern. Herbert L. Fred, MD and Hendrik A. van Dijk Symptoms and signs of tuberous sclerosis Tuberous sclerosis complex (TSC) is a multisystemic disorder due to autosomal dominant mutations in either TSC1 or TSC2 which results in the impaired inhibition of ...
Hand, foot, and mouth disease: HFRS Hemorrhagic fever with renal syndrome: HI Hearing impaired: HiB disease Haemophilus influenzae type B disease: HIBM Hereditary inclusion body myopathy: HMSN Type III Hereditary motor and sensory polyneuropathy type III (see Dejerine–Sottas syndrome) HOH Hard of hearing: HTN Hypertension: HPRT deficiency
The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to grow on the brain or other vital organs such as the kidneys , heart , eyes , lungs , and skin .
Nearly 50% of post-puberty individuals with tuberous sclerosis have KTs. [11] (Tuberous sclerosis is also associated with a second type of angiofibroma, adenoma sebaceum, also termed facial angiofibroma, in ~75% of cases. [14]) Individuals presenting with KTs that do not have tuberous sclerosis commonly present with a single lesion in a nail ...
Adenoma sebaceum presence represents one of the major diagnostic criteria to confirm the diagnosis of tuberous sclerosis. [5] When adenoma sebaceum presents with seizures and mental retardation (Vogt's triad), it indicates that cranial imaging is necessary, other differential diagnoses for this disorder include acne vulgaris, rhinophyma, and sebaceous hyperplasia.