Tuberous sclerosis

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Tuberous sclerosis, also tuberous sclerosis complex - abbreviated TSC, is genetic thingy associated with increased risk of hamartomas.

Historically described as:[1]

  1. Epilepsy.
  2. Mental retardation.
  3. Adenoma sebaceum.

Associations

Pathologic:

Note:

  • The same genes (TSC1, TSC2) are implicated in PEComas.

Genes

Incidence

~1 in 10,000 population.[1]

See also

References

  1. 1.0 1.1 URL: http://emedicine.medscape.com/article/1177711-overview. Accessed on: 13 February 2011.
  2. Grajkowska, W.; Kotulska, K.; Jurkiewicz, E.; Roszkowski, M.; Daszkiewicz, P.; Jóźwiak, S.; Matyja, E. (2011). "Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.". Folia Neuropathol 49 (1): 39-46. PMID 21455842.
  3. Online 'Mendelian Inheritance in Man' (OMIM) 605284
  4. Online 'Mendelian Inheritance in Man' (OMIM) 191092