Difference between revisions of "Tuberous sclerosis"
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*The same genes (TSC1, TSC2) are implicated in [[PEComa]]s. | *The same genes (TSC1<ref>{{OMIM|605284}}</ref>, TSC2<ref>{{OMIM|191092}}</ref>) are implicated in [[PEComa]]s. | ||
==Incidence== | ==Incidence== | ||
Revision as of 04:56, 29 July 2011
Tuberous sclerosis, also tuberous sclerosis complex - abbreviated TSC, is genetic thingy associated with increased risk of hamartomas.
Historically described as:[1]
- Epilepsy.
- Mental retardation.
- Adenoma sebaceum.
Associations
Pathologic:
- Renal angiomyolipoma.
- Cardiac rhabdomyoma.
- Lymphangiomyomatosis.
- Subependymal giant cell astrocytoma (SEGA).[2]
Note:
Incidence
~1 in 10,000 population.[1]
See also
References
- ↑ 1.0 1.1 URL: http://emedicine.medscape.com/article/1177711-overview. Accessed on: 13 February 2011.
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 605284
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 191092