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Tuberous sclerosis complex is diagnosed with clinical and genetic tests. There are many different mutations in the TSC1 and TSC2 genes that have been identified in individuals with TSC. A pathogenic mutation in the gene prevents the proteins from being made or inactivates the proteins.
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.
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.
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.
According to the Mayo Clinic. tuberous sclerosis — also called tuberous sclerosis complex (TSC) — is "an uncommon genetic disorder that causes tumors to develop in many parts of the body ...
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 ...