Difference between revisions of "Tuberous sclerosis"
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Pathologic: | Pathologic: | ||
*Renal [[angiomyolipoma]]. | *Renal [[angiomyolipoma]]. | ||
** | **Represent approximately 85% of renal lesions in 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><ref name=pmid17003820>{{cite journal |author=Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA |title=Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors |journal=Kidney Int. |volume=70 |issue=10 |pages=1777–82 |year=2006 |month=November |pmid=17003820 |doi=10.1038/sj.ki.5001853 |url=}}</ref> | ||
*Cardiac [[rhabdomyoma]]. | *Cardiac [[rhabdomyoma]]. | ||
*[[Lymphangiomyomatosis]]. | *[[Lymphangiomyomatosis]]. | ||
| Line 24: | Line 24: | ||
Note: | Note: | ||
*The same genes (TSC1, TSC2) are implicated in [[PEComa]]s. | *The same genes (TSC1, TSC2) are implicated in [[PEComa]]s. | ||
*Renal lesions are seen in ~60% of patients.<ref name=pmid17003820/> | |||
Mnemonic '''SALSA HEART''':<ref>URL: [http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html]. Accessed on: 20 October 2011.</ref> | Mnemonic '''SALSA HEART''':<ref>URL: [http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html]. Accessed on: 20 October 2011.</ref> | ||
Revision as of 17:34, 10 December 2014
Tuberous sclerosis, also tuberous sclerosis complex (abbreviated TSC), is an autosomal dominant syndrome associated with an increased risk of hamartomas and some risk increase for malignant tumours.
Historically described as:[1]
- Epilepsy.
- Mental retardation.
- Adenoma sebaceum (angiofibromas).
General
Associations
Pathologic:
- Renal angiomyolipoma.
- Cardiac rhabdomyoma.
- Lymphangiomyomatosis.
- Seen in ~1/3 of females with TSC in one series.[3]
- Subependymal giant cell astrocytoma (SEGA).[4]
- Renal cysts.[2]
- Seen in ~45% of individuals with TSC in one series, no gender bias.[3]
- Tuberous sclerosis-associated renal cell carcinoma - an evolving entity.[2]
Note:
- The same genes (TSC1, TSC2) are implicated in PEComas.
- Renal lesions are seen in ~60% of patients.[3]
Mnemonic SALSA HEART:[5]
- Shagreen patches.
- Shagreen patch = connective-tissue nevus composed of collagen, i.e. collagenoma.[6]
- Ash Leaf spots.
- SEGA.
- Angiofibroma.
- Hamartomas.
- Epilepsy.
- Angiomyolipoma.
- Rhabdomyoma.
- Tubers.
Genes
Incidence
~1 in 10,000 population.[1][9]
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.
- ↑ 3.0 3.1 3.2 3.3 3.4 Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (November 2006). "Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors". Kidney Int. 70 (10): 1777–82. doi:10.1038/sj.ki.5001853. PMID 17003820.
- ↑ 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
- ↑ 9.0 9.1 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.