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[[Image: | [[Image:Angiomyolipoma -- low mag.jpg|thumb|right|[[Micrograph]] showing a renal [[angiomyolipoma]], as may be seen in tuberous sclerosis. [[H&E stain]]. (WC/KGH)]] | ||
'''Tuberous sclerosis''', also '''tuberous sclerosis complex''' (abbreviated '''TSC'''), is an autosomal dominant [[syndrome]] associated with an increased risk of [[hamartoma]]s and some risk increase for malignant tumours. | '''Tuberous sclerosis''', also '''tuberous sclerosis complex''' (abbreviated '''TSC'''), is an autosomal dominant [[syndrome]] associated with an increased risk of [[hamartoma]]s and some risk increase for malignant tumours. | ||
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#Mental retardation. | #Mental retardation. | ||
#Adenoma sebaceum ([[angiofibroma]]s). | #Adenoma sebaceum ([[angiofibroma]]s). | ||
Diagnostic consensus criteria [http://www.pedneur.com/article/S0887-8994%2813%2900490-6/pdf published] (2012, OpenAcess). | |||
Also called ''Bourneville-Pringle disease''. | |||
==General== | ==General== | ||
*Autosomal dominant with variable penetrance.<ref name=pmid25093518/> | *Autosomal dominant with variable penetrance.<ref name=pmid25093518/> | ||
*Majority (60-70%) are ''de novo'' mutations.<ref name=pmid25093518/> | *Majority (60-70%) are ''de novo'' mutations.<ref name=pmid25093518/> | ||
*May be treated with a mTOR inhibitor,<ref name=pmid23413089>{{Cite journal | last1 = Pirson | first1 = Y. | title = Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. | journal = Nephrol Dial Transplant | volume = 28 | issue = 7 | pages = 1680-5 | month = Jul | year = 2013 | doi = 10.1093/ndt/gft009 | PMID = 23413089 }}</ref> | *May be treated with a mTOR inhibitor, e.g. [[everolimus]].<ref name=pmid23413089>{{Cite journal | last1 = Pirson | first1 = Y. | title = Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. | journal = Nephrol Dial Transplant | volume = 28 | issue = 7 | pages = 1680-5 | month = Jul | year = 2013 | doi = 10.1093/ndt/gft009 | PMID = 23413089 }}</ref> | ||
==Associations== | ==Associations== | ||
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**Seen in ~1/3 of females with TSC in one series.<ref name=pmid17003820/> | **Seen in ~1/3 of females with TSC in one series.<ref name=pmid17003820/> | ||
*[[Subependymal giant cell astrocytoma]] (SEGA).<ref name=pmid21455842>{{Cite journal | last1 = Grajkowska | first1 = W. | last2 = Kotulska | first2 = K. | last3 = Jurkiewicz | first3 = E. | last4 = Roszkowski | first4 = M. | last5 = Daszkiewicz | first5 = P. | last6 = Jóźwiak | first6 = S. | last7 = Matyja | first7 = E. | title = Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. | journal = Folia Neuropathol | volume = 49 | issue = 1 | pages = 39-46 | month = | year = 2011 | doi = | PMID = 21455842 }}</ref> | *[[Subependymal giant cell astrocytoma]] (SEGA).<ref name=pmid21455842>{{Cite journal | last1 = Grajkowska | first1 = W. | last2 = Kotulska | first2 = K. | last3 = Jurkiewicz | first3 = E. | last4 = Roszkowski | first4 = M. | last5 = Daszkiewicz | first5 = P. | last6 = Jóźwiak | first6 = S. | last7 = Matyja | first7 = E. | title = Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. | journal = Folia Neuropathol | volume = 49 | issue = 1 | pages = 39-46 | month = | year = 2011 | doi = | PMID = 21455842 }}</ref> | ||
**Usu at. thalamo-striatal sulcus of the lateral ventricle. | |||
**Contrast enhancement and progressive growth. | |||
**Precursor: Subependymal nodules (SENs) without enhancement. | |||
*Renal cysts.<ref name=pmid25093518/> | *Renal cysts.<ref name=pmid25093518/> | ||
**Seen in ~45% of individuals with TSC in one series, no gender bias.<ref name=pmid17003820/> | **Seen in ~45% of individuals with TSC in one series, no gender bias.<ref name=pmid17003820/> | ||
*[[Tuberous sclerosis-associated renal cell carcinoma]] - an evolving entity.<ref name=pmid25093518/> | *[[Tuberous sclerosis-associated renal cell carcinoma]] - an evolving entity.<ref name=pmid25093518/> | ||
*[[Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis|Multifocal micronodular pneumocyte hyperplasia]]<ref name=pmid15841738>{{Cite journal | last1 = Kobayashi | first1 = T. | last2 = Satoh | first2 = K. | last3 = Ohkawa | first3 = M. | title = Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis. | journal = Acta Radiol | volume = 46 | issue = 1 | pages = 37-40 | month = Feb | year = 2005 | doi = | PMID = 15841738 }}</ref> - may mimic [[atypical adenomatous hyperplasia of the lung|atypical adenomatous hyperplasia]].<ref name=pmid18535095>{{Cite journal | last1 = Kobashi | first1 = Y. | last2 = Sugiu | first2 = T. | last3 = Mouri | first3 = K. | last4 = Irei | first4 = T. | last5 = Nakata | first5 = M. | last6 = Oka | first6 = M. | title = Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: differentiation from multiple atypical adenomatous hyperplasia. | journal = Jpn J Clin Oncol | volume = 38 | issue = 6 | pages = 451-4 | month = Jun | year = 2008 | doi = 10.1093/jjco/hyn042 | PMID = 18535095 }}</ref> | |||
*[[Cortical tuber]]s (malformative, epilepsy-associated).<ref>{{Cite journal | last1 = Cotter | first1 = JA. | title = An update on the central nervous system manifestations of tuberous sclerosis complex. | journal = Acta Neuropathol | volume = | issue = | pages = | month = Apr | year = 2019 | doi = 10.1007/s00401-019-02003-1 | PMID = 30976976 }}</ref> | |||
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/> | *Renal lesions are seen in ~60% of patients.<ref name=pmid17003820/> | ||
[[File:TSC.png|thumb300px]] | |||
*Scheme illustrates types of neuropathologic changes in tuberous sclerosis complex. 1- isolated balloon cells in white matter, TSC-/-; 2- heterotopic cluster with dysplastic neurons TSC-/+; 3- subependymal nodules and 4- subependymal giant cell astrocytoma in ependyma of third ventricle (note that this is not usual localisation for both lesions, which is rather ependyma of lateral ventricles) 5- cortical tuber; 6 - linear migration streak. This scheme is based on DiMario, F Brain abnormalities in Tuberous Sclerosis Complex J Child Neurol, 9, 650-657. 2004.<ref>{{Cite journal | last1 = DiMario | first1 = FJ. | title = Brain abnormalities in tuberous sclerosis complex. | journal = J Child Neurol | volume = 19 | issue = 9 | pages = 650-7 | month = Sep | year = 2004 | doi = 10.1177/08830738040190090401 | PMID = 15563010 }}</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> | 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> | ||
*'''S'''hagreen patches. | *'''S'''hagreen patches. | ||
**Shagreen patch = ''connective-tissue nevus'' composed of collagen, i.e. ''collagenoma''.<ref>URL: [http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html]. Accessed on: 18 February 2012.</ref> | **Shagreen patch = ''connective-tissue nevus'' composed of collagen, i.e. ''collagenoma''.<ref>URL: [http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html]. Accessed on: 18 February 2012.</ref> | ||
*'''A'''sh | *'''A'''sh-leaf spots. | ||
*'''S'''EGA. | **Hypopigmented [[macule]]s.<ref name=pmid23761491>{{Cite journal | last1 = Jindal | first1 = R. | last2 = Jain | first2 = A. | last3 = Gupta | first3 = A. | last4 = Shirazi | first4 = N. | title = Ash-leaf spots or naevus depigmentosus: a diagnostic challenge. | journal = BMJ Case Rep | volume = 2013 | issue = | pages = | month = Jun | year = 2013 | doi = 10.1136/bcr-2012-007008 | PMID = 23761491 }}</ref> | ||
*[[Lymphangioleiomyomatosis]]. | |||
*[[Subependymal giant cell astrocytoma|'''S'''EGA]]. | |||
*[[angiofibroma|'''A'''ngiofibroma]]. | *[[angiofibroma|'''A'''ngiofibroma]]. | ||
*[[hamartoma|'''H'''amartomas]]. | *[[hamartoma|'''H'''amartomas]]. | ||
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[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Neuropathology]] | |||