Neurofibromatosis - Revision history

Michael: /* Neurofibromatosis type 1 */ reorder

2021-08-24T14:20:13Z

Neurofibromatosis type 1: reorder

← Older revision		Revision as of 14:20, 24 August 2021
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	Note:		Note:
	* † One could include ''paraganglioma'' here.		* † One could include ''paraganglioma'' here.

			===Other associations===
			*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal \| last1 = Alexakis \| first1 = N. \| last2 = Connor \| first2 = S. \| last3 = Ghaneh \| first3 = P. \| last4 = Lombard \| first4 = M. \| last5 = Smart \| first5 = HL. \| last6 = Evans \| first6 = J. \| last7 = Hughes \| first7 = M. \| last8 = Garvey \| first8 = CJ. \| last9 = Vora \| first9 = J. \| title = Hereditary pancreatic endocrine tumours. \| journal = Pancreatology \| volume = 4 \| issue = 5 \| pages = 417-33; discussion 434-5 \| month = \| year = 2004 \| doi = 10.1159/000079616 \| PMID = 15249710 }}</ref>
			*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal \|author=Agaimy A, Hartmann A \|title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] \|language=German \|journal=Pathologe \|volume=31 \|issue=6 \|pages=430–7 \|year=2010 \|month=October \|pmid=20848108 \|doi=10.1007/s00292-010-1354-6 \|url=}}</ref>
			*[[Glomus tumour]].<ref name=pmid25426397>{{cite journal \|authors=Harrison B, Sammer D \|title=Glomus tumors and neurofibromatosis: a newly recognized association \|journal=Plast Reconstr Surg Glob Open \|volume=2 \|issue=9 \|pages=e214 \|date=September 2014 \|pmid=25426397 \|pmc=4229273 \|doi=10.1097/GOX.0000000000000144 \|url=}}</ref>

			===Possible association===
			*[[Gangliocytic paraganglioma]].<ref name=pmid12754392>{{Cite journal \| last1 = Castoldi \| first1 = L. \| last2 = De Rai \| first2 = P. \| last3 = Marini \| first3 = A. \| last4 = Ferrero \| first4 = S. \| last5 = De Luca \| first5 = V. \| last6 = Tiberio \| first6 = G. \| title = Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction. \| journal = Int J Gastrointest Cancer \| volume = 29 \| issue = 2 \| pages = 93-98 \| month = \| year = 2001 \| doi = \| PMID = 12754392 }}</ref>

	===Images===		===Images===
Line 44:		Line 52:
	File:MPNST Pathology gross.jpg \| Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)		File:MPNST Pathology gross.jpg \| Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)
	</gallery>		</gallery>

	~~===Others===~~
	*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal \| last1 = Alexakis \| first1 = N. \| last2 = Connor \| first2 = S. \| last3 = Ghaneh \| first3 = P. \| last4 = Lombard \| first4 = M. \| last5 = Smart \| first5 = HL. \| last6 = Evans \| first6 = J. \| last7 = Hughes \| first7 = M. \| last8 = Garvey \| first8 = CJ. \| last9 = Vora \| first9 = J. \| title = Hereditary pancreatic endocrine tumours. \| journal = Pancreatology \| volume = 4 \| issue = 5 \| pages = 417-33; discussion 434-5 \| month = \| year = 2004 \| doi = 10.1159/000079616 \| PMID = 15249710 }}</ref>
	*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal \|author=Agaimy A, Hartmann A \|title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] \|language=German \|journal=Pathologe \|volume=31 \|issue=6 \|pages=430–7 \|year=2010 \|month=October \|pmid=20848108 \|doi=10.1007/s00292-010-1354-6 \|url=}}</ref>
	*[[Glomus tumour]].<ref name=pmid25426397>{{cite journal \|authors=Harrison B, Sammer D \|title=Glomus tumors and neurofibromatosis: a newly recognized association \|journal=Plast Reconstr Surg Glob Open \|volume=2 \|issue=9 \|pages=e214 \|date=September 2014 \|pmid=25426397 \|pmc=4229273 \|doi=10.1097/GOX.0000000000000144 \|url=}}</ref>

	~~===Possible association===~~
	*[[Gangliocytic paraganglioma]].<ref name=pmid12754392>{{Cite journal \| last1 = Castoldi \| first1 = L. \| last2 = De Rai \| first2 = P. \| last3 = Marini \| first3 = A. \| last4 = Ferrero \| first4 = S. \| last5 = De Luca \| first5 = V. \| last6 = Tiberio \| first6 = G. \| title = Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction. \| journal = Int J Gastrointest Cancer \| volume = 29 \| issue = 2 \| pages = 93-98 \| month = \| year = 2001 \| doi = \| PMID = 12754392 }}</ref>

	==Neurofibromatosis type 2==		==Neurofibromatosis type 2==

Michael: /* Others */

2021-05-26T15:26:30Z

Others

← Older revision		Revision as of 15:26, 26 May 2021
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	*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal \| last1 = Alexakis \| first1 = N. \| last2 = Connor \| first2 = S. \| last3 = Ghaneh \| first3 = P. \| last4 = Lombard \| first4 = M. \| last5 = Smart \| first5 = HL. \| last6 = Evans \| first6 = J. \| last7 = Hughes \| first7 = M. \| last8 = Garvey \| first8 = CJ. \| last9 = Vora \| first9 = J. \| title = Hereditary pancreatic endocrine tumours. \| journal = Pancreatology \| volume = 4 \| issue = 5 \| pages = 417-33; discussion 434-5 \| month = \| year = 2004 \| doi = 10.1159/000079616 \| PMID = 15249710 }}</ref>		*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal \| last1 = Alexakis \| first1 = N. \| last2 = Connor \| first2 = S. \| last3 = Ghaneh \| first3 = P. \| last4 = Lombard \| first4 = M. \| last5 = Smart \| first5 = HL. \| last6 = Evans \| first6 = J. \| last7 = Hughes \| first7 = M. \| last8 = Garvey \| first8 = CJ. \| last9 = Vora \| first9 = J. \| title = Hereditary pancreatic endocrine tumours. \| journal = Pancreatology \| volume = 4 \| issue = 5 \| pages = 417-33; discussion 434-5 \| month = \| year = 2004 \| doi = 10.1159/000079616 \| PMID = 15249710 }}</ref>
	*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal \|author=Agaimy A, Hartmann A \|title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] \|language=German \|journal=Pathologe \|volume=31 \|issue=6 \|pages=430–7 \|year=2010 \|month=October \|pmid=20848108 \|doi=10.1007/s00292-010-1354-6 \|url=}}</ref>		*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal \|author=Agaimy A, Hartmann A \|title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] \|language=German \|journal=Pathologe \|volume=31 \|issue=6 \|pages=430–7 \|year=2010 \|month=October \|pmid=20848108 \|doi=10.1007/s00292-010-1354-6 \|url=}}</ref>
			*[[Glomus tumour]].<ref name=pmid25426397>{{cite journal \|authors=Harrison B, Sammer D \|title=Glomus tumors and neurofibromatosis: a newly recognized association \|journal=Plast Reconstr Surg Glob Open \|volume=2 \|issue=9 \|pages=e214 \|date=September 2014 \|pmid=25426397 \|pmc=4229273 \|doi=10.1097/GOX.0000000000000144 \|url=}}</ref>

	===Possible association===		===Possible association===

Jensflorian: fix accidental duplication

2018-06-28T07:29:37Z

fix accidental duplication

← Older revision		Revision as of 07:29, 28 June 2018
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	[[Category:Neuropathology]]		[[Category:Neuropathology]]
	~~[[Category:Syndromes]]~~

	~~Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>~~
	~~#Two or more [[neurofibroma]]s or one [[plexiform neurofibroma]].~~
	~~#*May give rise to a [[malignant peripheral nerve sheath tumour]].~~
	~~#Café-au-lait spots.~~
	~~#Freckles in axilla or inguinal area.~~
	~~#Optic nerve glioma.~~
	~~#Iris hamartomas (Lisch nodules).~~
	~~#Sphenoid dysplasia or typical long-bone abnormalities (e.g. bowing).~~
	~~#First-degree relative with NF1.~~

	~~====Mnemonic====~~
	Diagnostic criteria ''CAFE SPOT'':<ref>URL: [http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria]. Accessed on: 30 May 2011.</ref>
	* '''C'''afé-au-lait spots.
	* '''A'''xillary or inguinal freckling.
	* neuro'''F'''ibroma (two or more) ''or'' plexiform neurofibroma (one).
	* '''E'''ye hamartomas (Lisch nodules).
	* '''S'''keletal abnormalities, e.g. ''s''phenoid dysplasia, leg bowing.
	* '''P'''ositive family history. †
	* '''O'''ptic '''T'''umour (optic nerve glioma).

	~~Note:~~
	* † One could include ''paraganglioma'' here.

	~~===Images===~~
	~~<gallery>~~
	~~File:Early_neurofibromatosis.jpg \| Café-au-lait spot (WC/Haymanj)~~
	~~File:NF-1-Tache_cafe-au-lait.jpg \| Café-au-lait spot (WC/Accrochoc)~~
	~~File:Lisch_nodules.gif \| Lisch nodule (iris hamartoma) in the eye (WC/filip em)~~
	~~File:Neurofibroma03.jpg \| Multiple neurofibromas of the skin in NF1 (WC/Enigma51)~~
	~~File:Neurofibroma02.jpg \| Multiple neurofibromas of the skin in NF1 (WC/Enigma51)~~
	~~File:Neurofibroma_large_NF1.jpg \| Large neurofibroma in a NF1 case (WC/jensflorian)~~
	~~File:Neurofibromatosis,_bowel.jpg \| Neurofibromatosis in the bowel (WC/Dr. Robertson)~~
	~~File:MPNST Pathology gross.jpg \| Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)~~
	~~</gallery>~~

	~~===Others===~~
	*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal \| last1 = Alexakis \| first1 = N. \| last2 = Connor \| first2 = S. \| last3 = Ghaneh \| first3 = P. \| last4 = Lombard \| first4 = M. \| last5 = Smart \| first5 = HL. \| last6 = Evans \| first6 = J. \| last7 = Hughes \| first7 = M. \| last8 = Garvey \| first8 = CJ. \| last9 = Vora \| first9 = J. \| title = Hereditary pancreatic endocrine tumours. \| journal = Pancreatology \| volume = 4 \| issue = 5 \| pages = 417-33; discussion 434-5 \| month = \| year = 2004 \| doi = 10.1159/000079616 \| PMID = 15249710 }}</ref>
	*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal \|author=Agaimy A, Hartmann A \|title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] \|language=German \|journal=Pathologe \|volume=31 \|issue=6 \|pages=430–7 \|year=2010 \|month=October \|pmid=20848108 \|doi=10.1007/s00292-010-1354-6 \|url=}}</ref>

	~~===Possible association===~~
	*[[Gangliocytic paraganglioma]].<ref name=pmid12754392>{{Cite journal \| last1 = Castoldi \| first1 = L. \| last2 = De Rai \| first2 = P. \| last3 = Marini \| first3 = A. \| last4 = Ferrero \| first4 = S. \| last5 = De Luca \| first5 = V. \| last6 = Tiberio \| first6 = G. \| title = Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction. \| journal = Int J Gastrointest Cancer \| volume = 29 \| issue = 2 \| pages = 93-98 \| month = \| year = 2001 \| doi = \| PMID = 12754392 }}</ref>

	~~==Neurofibromatosis type 2==~~
	*Caused by mutations in the ''NF2 gene'';<ref name=omim101000>{{OMIM\|101000}}</ref> this gene is also known as ''merlin''.<ref name=omim607379>{{OMIM\|607379}}</ref>

	~~===Diagnosis===~~
	~~Features (need 1/3 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1178283-overview http://emedicine.medscape.com/article/1178283-overview]. Accessed on: 3 May 2010.</ref>~~
	~~#Bilateral CNVIII masses on imaging.~~
	~~#Unilateral CNVIII mass + first-degree relative with NF2.~~
	~~#First-degree relative with NF2 ''and'' 2/4 of the following:~~
	## [[Meningioma]] (meningothelial meningioma).<ref>URL: [http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm]. Accessed on: 26 October 2010.</ref>
	~~## Glioma.~~
	~~## [[Schwannoma]].~~
	~~## Juvenile cataract.~~

	~~Mnemonic ''MISME'':<ref>URL: [http://emedicine.medscape.com/article/342667-overview http://emedicine.medscape.com/article/342667-overview]. Accessed on: 20 February 2012.</ref>~~
	*'''M'''ultiple '''I'''nherited [[schwannoma\|'''S'''chwannomas]].
	*[[meningioma\|'''M'''eningiomas]].
	*[[ependymoma\|'''E'''pendymomas]].

	~~Other:~~
	*Cerebral microhamartomas.
	*Schwannosis (Schwann cell proliferations).
	*Peripheral neuropathy.


	~~===Meningioangiomatosis===~~
	*Cortical proliferations of meningeothelial cells around small vessels.
	*May occur within NF2 and sporadic.
	*Associated with seizures and/or headaches.
	**Often asymptomatic.
	~~<gallery>~~
	~~File:Meningoangiomatosis low mag.jpg \| Meningioangiomatosis, low mag. (WC/jensflorian)~~
	~~File:Meningoangiomatosis higher mag.jpg \| Meningioangiomatosis, higher mag.(WC/jensflorian)~~
	~~</gallery>~~

	~~==See also==~~
	*[[Soft tissue lesions]].
	*[[Neurocutaneous syndromes]].
	*[[Berry aneurysm]].

	~~==References==~~
	~~{{reflist\|2}}~~

	~~[[Category:Weird stuff]]~~
	[[Category:Syndromes]]		[[Category:Syndromes]]

Jensflorian: +schwannomatosis

2018-06-28T06:32:07Z

+schwannomatosis

← Older revision		Revision as of 06:32, 28 June 2018
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	'''Neurofibromatosis''' is a genetic conditions, also known as '''von Recklinghausen's disease'''. It is abbreviated as '''NF'''.		'''Neurofibromatosis''' is a genetic conditions, also known as '''von Recklinghausen's disease'''. It is abbreviated as '''NF'''.

	It comes in ~~two~~ flavours:		It comes in several flavours:
	#Neurofibromatosis type 1 - NF1 (peripheral).		#Neurofibromatosis type 1 - NF1 (peripheral).
	#Neurofibromatosis type 2 - NF2 (central).		#Neurofibromatosis type 2 - NF2 (central).
			#Neurofibromatosis type 3 - Schwannomatosis.

	==Neurofibromatosis type 1==		==Neurofibromatosis type 1==
Line 9:		Line 10:

	===Diagnosis===		===Diagnosis===
			Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>
			#Two or more [[neurofibroma]]s or one [[plexiform neurofibroma]].
			#*May give rise to a [[malignant peripheral nerve sheath tumour]].
			#Café-au-lait spots.
			#Freckles in axilla or inguinal area.
			#Optic nerve glioma.
			#Iris hamartomas (Lisch nodules).
			#Sphenoid dysplasia or typical long-bone abnormalities (e.g. bowing).
			#First-degree relative with NF1.

			====Mnemonic====
			Diagnostic criteria ''CAFE SPOT'':<ref>URL: [http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria]. Accessed on: 30 May 2011.</ref>
			* '''C'''afé-au-lait spots.
			* '''A'''xillary or inguinal freckling.
			* neuro'''F'''ibroma (two or more) ''or'' plexiform neurofibroma (one).
			* '''E'''ye hamartomas (Lisch nodules).
			* '''S'''keletal abnormalities, e.g. ''s''phenoid dysplasia, leg bowing.
			* '''P'''ositive family history. †
			* '''O'''ptic '''T'''umour (optic nerve glioma).

			Note:
			* † One could include ''paraganglioma'' here.

			===Images===
			<gallery>
			File:Early_neurofibromatosis.jpg \| Café-au-lait spot (WC/Haymanj)
			File:NF-1-Tache_cafe-au-lait.jpg \| Café-au-lait spot (WC/Accrochoc)
			File:Lisch_nodules.gif \| Lisch nodule (iris hamartoma) in the eye (WC/filip em)
			File:Neurofibroma03.jpg \| Multiple neurofibromas of the skin in NF1 (WC/Enigma51)
			File:Neurofibroma02.jpg \| Multiple neurofibromas of the skin in NF1 (WC/Enigma51)
			File:Neurofibroma_large_NF1.jpg \| Large neurofibroma in a NF1 case (WC/jensflorian)
			File:Neurofibromatosis,_bowel.jpg \| Neurofibromatosis in the bowel (WC/Dr. Robertson)
			File:MPNST Pathology gross.jpg \| Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)
			</gallery>

			===Others===
			*[[Pancreatic neuroendocrine tumour]].<ref name=pmid15249710>{{Cite journal \| last1 = Alexakis \| first1 = N. \| last2 = Connor \| first2 = S. \| last3 = Ghaneh \| first3 = P. \| last4 = Lombard \| first4 = M. \| last5 = Smart \| first5 = HL. \| last6 = Evans \| first6 = J. \| last7 = Hughes \| first7 = M. \| last8 = Garvey \| first8 = CJ. \| last9 = Vora \| first9 = J. \| title = Hereditary pancreatic endocrine tumours. \| journal = Pancreatology \| volume = 4 \| issue = 5 \| pages = 417-33; discussion 434-5 \| month = \| year = 2004 \| doi = 10.1159/000079616 \| PMID = 15249710 }}</ref>
			*[[Gastrointestinal stromal tumour]].<ref name=pmid20848108>{{cite journal \|author=Agaimy A, Hartmann A \|title=[Hereditary and non-hereditary syndromic gastointestinal stromal tumours] \|language=German \|journal=Pathologe \|volume=31 \|issue=6 \|pages=430–7 \|year=2010 \|month=October \|pmid=20848108 \|doi=10.1007/s00292-010-1354-6 \|url=}}</ref>

			===Possible association===
			*[[Gangliocytic paraganglioma]].<ref name=pmid12754392>{{Cite journal \| last1 = Castoldi \| first1 = L. \| last2 = De Rai \| first2 = P. \| last3 = Marini \| first3 = A. \| last4 = Ferrero \| first4 = S. \| last5 = De Luca \| first5 = V. \| last6 = Tiberio \| first6 = G. \| title = Neurofibromatosis-1 and Ampullary Gangliocytic Paraganglioma Causing Biliary and Pancreatic Obstruction. \| journal = Int J Gastrointest Cancer \| volume = 29 \| issue = 2 \| pages = 93-98 \| month = \| year = 2001 \| doi = \| PMID = 12754392 }}</ref>

			==Neurofibromatosis type 2==
			*Caused by mutations in the ''NF2 gene'';<ref name=omim101000>{{OMIM\|101000}}</ref> this gene is also known as ''merlin''.<ref name=omim607379>{{OMIM\|607379}}</ref>
			*Reduced life expectancy.
			*Mean age at diagnosis: 35years.

			===Diagnosis===
			Features (need 1/3 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1178283-overview http://emedicine.medscape.com/article/1178283-overview]. Accessed on: 3 May 2010.</ref>
			#Bilateral CNVIII masses on imaging.
			#Unilateral CNVIII mass + first-degree relative with NF2.
			#First-degree relative with NF2 ''and'' 2/4 of the following:
			## [[Meningioma]] (meningothelial meningioma) up to 50% of the cases.<ref>URL: [http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm http://moon.ouhsc.edu/kfung/jty1/neurotest/Q13-Ans.htm]. Accessed on: 26 October 2010.</ref>
			## Glioma, mostly spinal [[ependymoma]]s (up tp 20% of NF2 cases affected).
			## [[Schwannoma]].
			## Juvenile cataract.

			Mnemonic ''MISME'':<ref>URL: [http://emedicine.medscape.com/article/342667-overview http://emedicine.medscape.com/article/342667-overview]. Accessed on: 20 February 2012.</ref>
			*'''M'''ultiple '''I'''nherited [[schwannoma\|'''S'''chwannomas]].
			*[[meningioma\|'''M'''eningiomas]].
			*[[ependymoma\|'''E'''pendymomas]].

			Other:
			*Cerebral microhamartomas.
			*Schwannosis (Schwann cell proliferations).
			*Peripheral neuropathy.


			===Meningioangiomatosis===
			*Cortical proliferations of meningeothelial cells around small vessels.
			*May occur within NF2 and sporadic.
			*Associated with seizures and/or headaches.
			**Often asymptomatic.
			<gallery>
			File:Meningoangiomatosis low mag.jpg \| Meningioangiomatosis, low mag. (WC/jensflorian)
			File:Meningoangiomatosis higher mag.jpg \| Meningioangiomatosis, higher mag.(WC/jensflorian)
			</gallery>

			==See also==
			*[[Soft tissue lesions]].
			*[[Neurocutaneous syndromes]].
			*[[Berry aneurysm]].


			==Schwannomatosis==
			*Autosomal dominant.
			*Prevalence: 1:155000 (UK).
			*Distinct entity from NF2, mainly due to absence of vestibular schwannomas.
			*Mean age at diagnosis: 40years.
			*Life expectancy better compared to NF2.

			===Diagnosis===
			Features:<ref>{{Cite journal \| last1 = Evans \| first1 = DG. \| last2 = Bowers \| first2 = NL. \| last3 = Tobi \| first3 = S. \| last4 = Hartley \| first4 = C. \| last5 = Wallace \| first5 = AJ. \| last6 = King \| first6 = AT. \| last7 = Lloyd \| first7 = SKW. \| last8 = Rutherford \| first8 = SA. \| last9 = Hammerbeck-Ward \| first9 = C. \| title = Schwannomatosis: a genetic and epidemiological study. \| journal = J Neurol Neurosurg Psychiatry \| volume = \| issue = \| pages = \| month = Jun \| year = 2018 \| doi = 10.1136/jnnp-2018-318538 \| PMID = 29909380 }}</ref>
			#Two or more non-intradermal [[schwannoma]]s.
			#Radiological exclusion of vestibular schwannoma.
			#NF2-mutation excluded.
			#One schwannoma or meningioma and one relative with confirmed schwannomatosis.
			#Germline SMARCB1 or LZTR1 variant and histologically confirmed [[schwannoma]] or [[meningioma]].

			===IHC===
			*INI1 mosaic pattern in schwannomas.<ref>{{Cite journal \| last1 = Caltabiano \| first1 = R. \| last2 = Magro \| first2 = G. \| last3 = Polizzi \| first3 = A. \| last4 = Praticò \| first4 = AD. \| last5 = Ortensi \| first5 = A. \| last6 = D'Orazi \| first6 = V. \| last7 = Panunzi \| first7 = A. \| last8 = Milone \| first8 = P. \| last9 = Maiolino \| first9 = L. \| title = A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. \| journal = Childs Nerv Syst \| volume = 33 \| issue = 6 \| pages = 933-940 \| month = Jun \| year = 2017 \| doi = 10.1007/s00381-017-3340-2 \| PMID = 28365909 }}</ref>

			==References==
			{{reflist\|2}}

			[[Category:Neuropathology]]
			[[Category:Syndromes]]

	Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>		Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>
	#Two or more [[neurofibroma]]s or one [[plexiform neurofibroma]].		#Two or more [[neurofibroma]]s or one [[plexiform neurofibroma]].

Jensflorian: /* Neurofibromatosis type 2 */

2016-04-11T08:51:27Z

Neurofibromatosis type 2

← Older revision		Revision as of 08:51, 11 April 2016
Line 83:		Line 83:
	File:Meningoangiomatosis low mag.jpg \| Meningioangiomatosis, low mag. (WC/jensflorian)		File:Meningoangiomatosis low mag.jpg \| Meningioangiomatosis, low mag. (WC/jensflorian)
	File:Meningoangiomatosis higher mag.jpg \| Meningioangiomatosis, higher mag.(WC/jensflorian)		File:Meningoangiomatosis higher mag.jpg \| Meningioangiomatosis, higher mag.(WC/jensflorian)
			</gallery>

	==See also==		==See also==

Jensflorian: /* Neurofibromatosis type 2 */ +Meningioangiomatosis

2016-04-11T08:51:05Z

Neurofibromatosis type 2: +Meningioangiomatosis

← Older revision		Revision as of 08:51, 11 April 2016
Line 68:		Line 68:
	*[[meningioma\|'''M'''eningiomas]].		*[[meningioma\|'''M'''eningiomas]].
	*[[ependymoma\|'''E'''pendymomas]].		*[[ependymoma\|'''E'''pendymomas]].

			Other:
			*Cerebral microhamartomas.
			*Schwannosis (Schwann cell proliferations).
			*Peripheral neuropathy.


			===Meningioangiomatosis===
			*Cortical proliferations of meningeothelial cells around small vessels.
			*May occur within NF2 and sporadic.
			*Associated with seizures and/or headaches.
			**Often asymptomatic.
			<gallery>
			File:Meningoangiomatosis low mag.jpg \| Meningioangiomatosis, low mag. (WC/jensflorian)
			File:Meningoangiomatosis higher mag.jpg \| Meningioangiomatosis, higher mag.(WC/jensflorian)

	==See also==		==See also==

Jensflorian: +images of NF1

2015-04-28T10:32:47Z

+images of NF1

← Older revision		Revision as of 10:32, 28 April 2015
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	Note:		Note:
	* † One could include ''paraganglioma'' here.		* † One could include ''paraganglioma'' here.

			===Images===
			<gallery>
			File:Early_neurofibromatosis.jpg \| Café-au-lait spot (WC/Haymanj)
			File:NF-1-Tache_cafe-au-lait.jpg \| Café-au-lait spot (WC/Accrochoc)
			File:Lisch_nodules.gif \| Lisch nodule (iris hamartoma) in the eye (WC/filip em)
			File:Neurofibroma03.jpg \| Multiple neurofibromas of the skin in NF1 (WC/Enigma51)
			File:Neurofibroma02.jpg \| Multiple neurofibromas of the skin in NF1 (WC/Enigma51)
			File:Neurofibroma_large_NF1.jpg \| Large neurofibroma in a NF1 case (WC/jensflorian)
			File:Neurofibromatosis,_bowel.jpg \| Neurofibromatosis in the bowel (WC/Dr. Robertson)
			File:MPNST Pathology gross.jpg \| Malignant peripheral nerve sheath tumor of the forearm (WC/drbloodmoney)
			</gallery>

	===Others===		===Others===

Michael: /* Neurofibromatosis type 1 */ w

2012-06-13T16:59:02Z

Neurofibromatosis type 1: w

← Older revision		Revision as of 16:59, 13 June 2012
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	===Diagnosis===		===Diagnosis===
	Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>		Features (need 2/7 to diagnose):<ref>URL: [http://emedicine.medscape.com/article/1177266-overview http://emedicine.medscape.com/article/1177266-overview]. Accessed on: 3 May 2010.</ref>
	#Two or more [[neurofibroma]]s or one plexiform neurofibroma.		#Two or more [[neurofibroma]]s or one [[plexiform neurofibroma]].
	#*May give rise to a [[malignant peripheral nerve sheath tumour]].		#*May give rise to a [[malignant peripheral nerve sheath tumour]].
	#Café-au-lait spots.		#Café-au-lait spots.

Michael: /* Mnemonic */

2012-05-05T04:49:14Z

Mnemonic

← Older revision		Revision as of 04:49, 5 May 2012
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	====Mnemonic====		====Mnemonic====
	''CAFE SPOT'':<ref>URL: [http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria]. Accessed on: 30 May 2011.</ref>		Diagnostic criteria ''CAFE SPOT'':<ref>URL: [http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria http://www.paeds.co.uk/wiki/index.php?title=Mnemonics#Neurofibromatosis_Type_1_diagnostic_criteria]. Accessed on: 30 May 2011.</ref>
	* '''C'''afé-au-lait spots.		* '''C'''afé-au-lait spots.
	* '''A'''xillary or inguinal freckling.		* '''A'''xillary or inguinal freckling.
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	Note:		Note:
	* † ~~Could~~ include ''paraganglioma'' here.		* † One could include ''paraganglioma'' here.

	===Others===		===Others===

Michael: /* Diagnosis */

2012-05-01T04:35:49Z

Diagnosis

← Older revision		Revision as of 04:35, 1 May 2012
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	* '''E'''ye hamartomas (Lisch nodules).		* '''E'''ye hamartomas (Lisch nodules).
	* '''S'''keletal abnormalities, e.g. ''s''phenoid dysplasia, leg bowing.		* '''S'''keletal abnormalities, e.g. ''s''phenoid dysplasia, leg bowing.
	* '''P'''~~araganglioma~~.		* '''P'''ositive family history. †
	* '''O'''ptic '''T'''umour (optic nerve glioma).		* '''O'''ptic '''T'''umour (optic nerve glioma).

			Note:
			* † Could include ''paraganglioma'' here.

	===Others===		===Others===