Difference between revisions of "Tuberous sclerosis"

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88 bytes added ,  17:34, 10 December 2014
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Pathologic:
Pathologic:
*Renal [[angiomyolipoma]].
*Renal [[angiomyolipoma]].
**Seen in approximately 85% 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><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>
**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]].
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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>
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