Tuberous sclerosis
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 (angiofibromas).
Associations
Pathologic:
- Renal angiomyolipoma.
- Cardiac rhabdomyoma.
- Lymphangiomyomatosis.
- Subependymal giant cell astrocytoma (SEGA).[2]
Note:
- The same genes (TSC1, TSC2) are implicated in PEComas.
Mnemonic SALSA HEART:[3]
- Shagreen patches.
- Ash Leaf spots.
- SEGA.
- Angiofibroma.
- Hamartomas.
- Epilepsy.
- Angiomyolipoma.
- Rhabdomyoma.
- Tubers.
Genes
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.
- ↑ URL: http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html. Accessed on: 20 October 2011.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 605284
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 191092