Difference between revisions of "Tuberous sclerosis"
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==Incidence== | ==Incidence== | ||
~1 in 10,000 population.<ref name=emed_ts>URL: [http://emedicine.medscape.com/article/1177711-overview http://emedicine.medscape.com/article/1177711-overview]. Accessed on: 13 February 2011.</ref> | ~1 in 10,000 population.<ref name=emed_ts>URL: [http://emedicine.medscape.com/article/1177711-overview http://emedicine.medscape.com/article/1177711-overview]. Accessed on: 13 February 2011.</ref>)<ref name=pmid9827727/> | ||
==See also== | ==See also== | ||
Revision as of 15:28, 10 December 2014
Tuberous sclerosis, also tuberous sclerosis complex (abbreviated TSC), is an autosomal dominant syndrome associated with an increased risk of hamartomas.
Historically described as:[1]
- Epilepsy.
- Mental retardation.
- Adenoma sebaceum (angiofibromas).
General
Associations
Pathologic:
- Renal angiomyolipoma.
- Seen in 80% of individuals with TSC.[2]
- Cardiac rhabdomyoma.
- Lymphangiomyomatosis.
- Subependymal giant cell astrocytoma (SEGA).[3]
- Renal cysts.[2]
- Tuberous sclerosis-associated renal cell carcinoma - an evolving entity.[2]
Note:
- The same genes (TSC1, TSC2) are implicated in PEComas.
Mnemonic SALSA HEART:[4]
- Shagreen patches.
- Shagreen patch = connective-tissue nevus composed of collagen, i.e. collagenoma.[5]
- Ash Leaf spots.
- SEGA.
- Angiofibroma.
- Hamartomas.
- Epilepsy.
- Angiomyolipoma.
- Rhabdomyoma.
- Tubers.
Genes
- TSC1.[6]
- TSC2.[7]
- Some evidence to suggest it is more often implicated in malignant tumours (than TSC1).[8]
Incidence
~1 in 10,000 population.[1])[8]
See also
References
- ↑ 1.0 1.1 URL: http://emedicine.medscape.com/article/1177711-overview. Accessed on: 13 February 2011.
- ↑ 2.0 2.1 2.2 2.3 2.4 Guo, J.; Tretiakova, MS.; Troxell, ML.; Osunkoya, AO.; Fadare, O.; Sangoi, AR.; Shen, SS.; Lopez-Beltran, A. et al. (Nov 2014). "Tuberous Sclerosis-associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients.". Am J Surg Pathol 38 (11): 1457-67. doi:10.1097/PAS.0000000000000248. PMID 25093518.
- ↑ 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.
- ↑ URL: http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html. Accessed on: 18 February 2012.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 605284
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 191092
- ↑ 8.0 8.1 Al-Saleem T, Wessner LL, Scheithauer BW, et al. (November 1998). "Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex". Cancer 83 (10): 2208–16. PMID 9827727.