Difference between revisions of "Tuberous sclerosis"
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#Mental retardation. | #Mental retardation. | ||
#Adenoma sebaceum ([[angiofibroma]]s). | #Adenoma sebaceum ([[angiofibroma]]s). | ||
==General== | |||
*Autosomal dominant with variable penetrance.<ref name=pmid25093518/> | |||
*Majority (60-70%) are ''de novo'' mutations.<ref name=pmid25093518/> | |||
==Associations== | ==Associations== | ||
Revision as of 02:37, 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).
General
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 2.2 2.3 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