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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.
Birt–Hogg–Dubé syndrome can manifest similarly to other diseases, which must be ruled out when making a diagnosis. These include tuberous sclerosis, which causes skin lesions similar to fibrofolliculomas, and Von Hippel–Lindau disease, which causes hereditary kidney cancers.
Similarly, genetic testing can produce false negatives. For example, genetic testing is positive in only 75-90% of cases of tuberous sclerosis complex. [77] Thus, clinicians must apply clinical judgement when evaluating an individual suspected to have a neurocutaneous syndrome.
Tuberous Sclerosis Complex (TSC): TSC is a genetic condition that leads to the formation of benign tumors in multiple organs. Dermatological signs such as hypomelanotic macules and facial angiofibromas are common, and poliosis can occasionally be an early indicator of TSC.
LAM occurs in two settings: in the disease tuberous sclerosis complex (TSC-LAM) and in a sporadic form, in women who do not have TSC (sporadic LAM). [17] [18] In both settings, genetic evidence indicates that LAM is caused by inactivating or "loss of function" mutations in the TSC1 or TSC2 genes, which were cloned in 1997 and 1993, respectively ...
Angiomyolipomas are the most common benign tumour of the kidney, and are found either in patients with tuberous sclerosis or sporadically. About 80–90% of cases are sporadic, and these are most commonly found in middle-aged women. [6] In patients with TSC, a longitudinal study found 80% will have some form of renal lesion by around 10 years ...
Nearly 2.3 million people are estimated to be living with multiple sclerosis around the world, but when Montel Williams received his official diagnosis back in 1999, not much was known about the ...
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2 . The complex is known as a tumor suppressor.