Difference between revisions of "Tuberous sclerosis"
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*Renal [[angiomyolipoma]]. | *Renal [[angiomyolipoma]]. | ||
**Seen in 80% of individuals with TSC.<ref name=pmid25093518>{{Cite journal | last1 = Guo | first1 = J. | last2 = Tretiakova | first2 = MS. | last3 = Troxell | first3 = ML. | last4 = Osunkoya | first4 = AO. | last5 = Fadare | first5 = O. | last6 = Sangoi | first6 = AR. | last7 = Shen | first7 = SS. | last8 = Lopez-Beltran | first8 = A. | last9 = Mehra | first9 = R. | title = Tuberous Sclerosis-associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients. | journal = Am J Surg Pathol | volume = 38 | issue = 11 | pages = 1457-67 | month = Nov | year = 2014 | doi = 10.1097/PAS.0000000000000248 | PMID = 25093518 }}</ref> | |||
*Renal cysts.<ref name=pmid25093518/> | |||
*Cardiac [[rhabdomyoma]]. | *Cardiac [[rhabdomyoma]]. | ||
*[[Lymphangiomyomatosis]]. | *[[Lymphangiomyomatosis]]. | ||
Revision as of 02:34, 14 November 2014
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.
- Seen in 80% of individuals with TSC.[2]
- Renal cysts.[2]
- Cardiac rhabdomyoma.
- Lymphangiomyomatosis.
- Subependymal giant cell astrocytoma (SEGA).[3]
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
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.
- ↑ 2.0 2.1 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