Birt–Hogg–Dubé syndrome - Revision history

Michael: /* Features */

2017-11-19T04:40:40Z

Features

← Older revision		Revision as of 04:40, 19 November 2017
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	**[[Renal cell carcinoma, unclassified]].		**[[Renal cell carcinoma, unclassified]].
	* Variable penetrance (autosomal dominant).		* Variable penetrance (autosomal dominant).
	* Lung cysts - inferior to carina (~80% of individuals with syndrome)).		* Lung cysts - inferior to carina (~80% of individuals with syndrome).
	**Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal \| last1 = Johannesma \| first1 = PC. \| last2 = Houweling \| first2 = AC. \| last3 = Menko \| first3 = FH. \| last4 = van de Beek \| first4 = I. \| last5 = Reinhard \| first5 = R. \| last6 = Gille \| first6 = JJ. \| last7 = van Waesberghe \| first7 = JT. \| last8 = Thunnissen \| first8 = E. \| last9 = Starink \| first9 = TM. \| title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? \| journal = Fam Cancer \| volume = 15 \| issue = 2 \| pages = 297-300 \| month = Apr \| year = 2016 \| doi = 10.1007/s10689-015-9853-5 \| PMID = 26603437 }}</ref>		**Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal \| last1 = Johannesma \| first1 = PC. \| last2 = Houweling \| first2 = AC. \| last3 = Menko \| first3 = FH. \| last4 = van de Beek \| first4 = I. \| last5 = Reinhard \| first5 = R. \| last6 = Gille \| first6 = JJ. \| last7 = van Waesberghe \| first7 = JT. \| last8 = Thunnissen \| first8 = E. \| last9 = Starink \| first9 = TM. \| title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? \| journal = Fam Cancer \| volume = 15 \| issue = 2 \| pages = 297-300 \| month = Apr \| year = 2016 \| doi = 10.1007/s10689-015-9853-5 \| PMID = 26603437 }}</ref>
	**[[Spontaneous pneumothorax]] (~25% of individuals with syndrome).<ref name=pmid27220747/>		**[[Spontaneous pneumothorax]] (~25% of individuals with syndrome).<ref name=pmid27220747/>

Michael: /* Features */ more

2017-11-19T04:40:18Z

Features: more

← Older revision		Revision as of 04:40, 19 November 2017
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	==Features==		==Features==
	BHD syndrome is characterized by:<ref name=Ref_WMSP290>{{Ref WMSP\|290}}</ref>		BHD syndrome is characterized by:<ref name=Ref_WMSP290>{{Ref WMSP\|290}}</ref><ref name=pmid27220747>{{Cite journal \| last1 = Furuya \| first1 = M. \| last2 = Yao \| first2 = M. \| last3 = Tanaka \| first3 = R. \| last4 = Nagashima \| first4 = Y. \| last5 = Kuroda \| first5 = N. \| last6 = Hasumi \| first6 = H. \| last7 = Baba \| first7 = M. \| last8 = Matsushima \| first8 = J. \| last9 = Nomura \| first9 = F. \| title = Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. \| journal = Clin Genet \| volume = 90 \| issue = 5 \| pages = 403-412 \| month = Nov \| year = 2016 \| doi = 10.1111/cge.12807 \| PMID = 27220747 }}</ref>
	* Skin lesions:		* Skin lesions of face, neck and anterior trunk (~80% of individuals with syndrome):
	**Fibrofolliculoma.		**Fibrofolliculoma.
	**Trichodiscoma.		**Trichodiscoma.
	**[[Acrochordon]].		**[[Acrochordon]].
	* Renal tumours:		* Renal tumours (~25-35% of individuals):
	**[[Chromophobe renal cell carcinoma]] - most common.		**[[Chromophobe renal cell carcinoma]] - most common.
	**[[Renal oncocytoma]].		**[[Renal oncocytoma]].
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	**[[Renal cell carcinoma, unclassified]].		**[[Renal cell carcinoma, unclassified]].
	* Variable penetrance (autosomal dominant).		* Variable penetrance (autosomal dominant).
	* Lung cysts - inferior to carina.		* Lung cysts - inferior to carina (~80% of individuals with syndrome)).
	**Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal \| last1 = Johannesma \| first1 = PC. \| last2 = Houweling \| first2 = AC. \| last3 = Menko \| first3 = FH. \| last4 = van de Beek \| first4 = I. \| last5 = Reinhard \| first5 = R. \| last6 = Gille \| first6 = JJ. \| last7 = van Waesberghe \| first7 = JT. \| last8 = Thunnissen \| first8 = E. \| last9 = Starink \| first9 = TM. \| title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? \| journal = Fam Cancer \| volume = 15 \| issue = 2 \| pages = 297-300 \| month = Apr \| year = 2016 \| doi = 10.1007/s10689-015-9853-5 \| PMID = 26603437 }}</ref>		**Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal \| last1 = Johannesma \| first1 = PC. \| last2 = Houweling \| first2 = AC. \| last3 = Menko \| first3 = FH. \| last4 = van de Beek \| first4 = I. \| last5 = Reinhard \| first5 = R. \| last6 = Gille \| first6 = JJ. \| last7 = van Waesberghe \| first7 = JT. \| last8 = Thunnissen \| first8 = E. \| last9 = Starink \| first9 = TM. \| title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? \| journal = Fam Cancer \| volume = 15 \| issue = 2 \| pages = 297-300 \| month = Apr \| year = 2016 \| doi = 10.1007/s10689-015-9853-5 \| PMID = 26603437 }}</ref>
			**[[Spontaneous pneumothorax]] (~25% of individuals with syndrome).<ref name=pmid27220747/>

	Note:		Note:

Michael: /* Features */

2017-11-18T22:42:00Z

Features

← Older revision		Revision as of 22:42, 18 November 2017
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	**[[Renal cell carcinoma, unclassified]].		**[[Renal cell carcinoma, unclassified]].
	* Variable penetrance (autosomal dominant).		* Variable penetrance (autosomal dominant).
			* Lung cysts - inferior to carina.
			**Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal \| last1 = Johannesma \| first1 = PC. \| last2 = Houweling \| first2 = AC. \| last3 = Menko \| first3 = FH. \| last4 = van de Beek \| first4 = I. \| last5 = Reinhard \| first5 = R. \| last6 = Gille \| first6 = JJ. \| last7 = van Waesberghe \| first7 = JT. \| last8 = Thunnissen \| first8 = E. \| last9 = Starink \| first9 = TM. \| title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? \| journal = Fam Cancer \| volume = 15 \| issue = 2 \| pages = 297-300 \| month = Apr \| year = 2016 \| doi = 10.1007/s10689-015-9853-5 \| PMID = 26603437 }}</ref>

	Note:		Note:

Michael: /* Features */

2017-11-18T22:08:37Z

Features

← Older revision		Revision as of 22:08, 18 November 2017
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	**[[Renal oncocytoma]].		**[[Renal oncocytoma]].
	**[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal \| last1 = Hes \| first1 = O. \| last2 = Petersson \| first2 = F. \| last3 = Kuroda \| first3 = N. \| last4 = Hora \| first4 = M. \| last5 = Michal \| first5 = M. \| title = Renal hybrid oncocytic/chromophobe tumors - a review. \| journal = Histol Histopathol \| volume = 28 \| issue = 10 \| pages = 1257-64 \| month = Oct \| year = 2013 \| doi = \| PMID = 23740406 }}</ref>		**[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal \| last1 = Hes \| first1 = O. \| last2 = Petersson \| first2 = F. \| last3 = Kuroda \| first3 = N. \| last4 = Hora \| first4 = M. \| last5 = Michal \| first5 = M. \| title = Renal hybrid oncocytic/chromophobe tumors - a review. \| journal = Histol Histopathol \| volume = 28 \| issue = 10 \| pages = 1257-64 \| month = Oct \| year = 2013 \| doi = \| PMID = 23740406 }}</ref>
			**[[Renal cell carcinoma, unclassified]].
	* Variable penetrance (autosomal dominant).		* Variable penetrance (autosomal dominant).

Michael at 04:30, 10 December 2015

2015-12-10T04:30:41Z

← Older revision		Revision as of 04:30, 10 December 2015
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	[[Image:Unclassified renal cell carcinoma in BHD -- intermed mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]		[[Image:Unclassified renal cell carcinoma in BHD -- intermed mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]
			[[Image:Unclassified renal cell carcinoma in BHD - b -- high mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]
	'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal \| last1 = Happle \| first1 = R. \| title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. \| journal = Am J Med Genet A \| volume = 158A \| issue = 6 \| pages = 1247-51 \| month = Jun \| year = 2012 \| doi = 10.1002/ajmg.a.35330 \| PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM\|135150}}</ref> It is abbreviated '''BHD syndrome'''.		'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal \| last1 = Happle \| first1 = R. \| title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. \| journal = Am J Med Genet A \| volume = 158A \| issue = 6 \| pages = 1247-51 \| month = Jun \| year = 2012 \| doi = 10.1002/ajmg.a.35330 \| PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM\|135150}}</ref> It is abbreviated '''BHD syndrome'''.

Michael at 04:29, 10 December 2015

2015-12-10T04:29:47Z

← Older revision		Revision as of 04:29, 10 December 2015
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			[[Image:Unclassified renal cell carcinoma in BHD -- intermed mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]
	'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal \| last1 = Happle \| first1 = R. \| title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. \| journal = Am J Med Genet A \| volume = 158A \| issue = 6 \| pages = 1247-51 \| month = Jun \| year = 2012 \| doi = 10.1002/ajmg.a.35330 \| PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM\|135150}}</ref> It is abbreviated '''BHD syndrome'''.		'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal \| last1 = Happle \| first1 = R. \| title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. \| journal = Am J Med Genet A \| volume = 158A \| issue = 6 \| pages = 1247-51 \| month = Jun \| year = 2012 \| doi = 10.1002/ajmg.a.35330 \| PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM\|135150}}</ref> It is abbreviated '''BHD syndrome'''.

Michael at 04:14, 4 December 2015

2015-12-04T04:14:41Z

← Older revision		Revision as of 04:14, 4 December 2015
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	**[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal \| last1 = Hes \| first1 = O. \| last2 = Petersson \| first2 = F. \| last3 = Kuroda \| first3 = N. \| last4 = Hora \| first4 = M. \| last5 = Michal \| first5 = M. \| title = Renal hybrid oncocytic/chromophobe tumors - a review. \| journal = Histol Histopathol \| volume = 28 \| issue = 10 \| pages = 1257-64 \| month = Oct \| year = 2013 \| doi = \| PMID = 23740406 }}</ref>		**[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal \| last1 = Hes \| first1 = O. \| last2 = Petersson \| first2 = F. \| last3 = Kuroda \| first3 = N. \| last4 = Hora \| first4 = M. \| last5 = Michal \| first5 = M. \| title = Renal hybrid oncocytic/chromophobe tumors - a review. \| journal = Histol Histopathol \| volume = 28 \| issue = 10 \| pages = 1257-64 \| month = Oct \| year = 2013 \| doi = \| PMID = 23740406 }}</ref>
	* Variable penetrance (autosomal dominant).		* Variable penetrance (autosomal dominant).

			Note:
			*May be seen with a mix of oncocytic renal tumours - known as ''[[renal oncocytosis]]''.

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

Michael at 22:38, 12 June 2015

2015-06-12T22:38:01Z

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	*[[Hereditary renal cell carcinoma]].		*[[Hereditary renal cell carcinoma]].
	**[[Von Hippel-Lindau syndrome]].		**[[Von Hippel-Lindau syndrome]].
			**[[Tuberous sclerosis-associated renal cell carcinoma]].

	==References==		==References==

Michael: /* Features */

2015-06-12T22:37:31Z

Features

← Older revision		Revision as of 22:37, 12 June 2015
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	**[[Chromophobe renal cell carcinoma]] - most common.		**[[Chromophobe renal cell carcinoma]] - most common.
	**[[Renal oncocytoma]].		**[[Renal oncocytoma]].
			**[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal \| last1 = Hes \| first1 = O. \| last2 = Petersson \| first2 = F. \| last3 = Kuroda \| first3 = N. \| last4 = Hora \| first4 = M. \| last5 = Michal \| first5 = M. \| title = Renal hybrid oncocytic/chromophobe tumors - a review. \| journal = Histol Histopathol \| volume = 28 \| issue = 10 \| pages = 1257-64 \| month = Oct \| year = 2013 \| doi = \| PMID = 23740406 }}</ref>
	* Variable penetrance (autosomal dominant).		* Variable penetrance (autosomal dominant).

Michael: +link

2013-01-07T15:47:12Z

+link

← Older revision		Revision as of 15:47, 7 January 2013
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	==See also==		==See also==
	*[[Hereditary renal cell carcinoma]].		*[[Hereditary renal cell carcinoma]].
			**[[Von Hippel-Lindau syndrome]].

	==References==		==References==

← Older revision		Revision as of 04:30, 10 December 2015
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	[[Image:Unclassified renal cell carcinoma in BHD -- intermed mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]		[[Image:Unclassified renal cell carcinoma in BHD -- intermed mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]
			[[Image:Unclassified renal cell carcinoma in BHD - b -- high mag.jpg \| thumb\|right\|[[Renal cell carcinoma, unclassified]] in a case of Birt–Hogg–Dubé syndrome. [[H&E stain]]. (WC)]]
	'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal \| last1 = Happle \| first1 = R. \| title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. \| journal = Am J Med Genet A \| volume = 158A \| issue = 6 \| pages = 1247-51 \| month = Jun \| year = 2012 \| doi = 10.1002/ajmg.a.35330 \| PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM\|135150}}</ref> It is abbreviated '''BHD syndrome'''.		'''Birt–Hogg–Dubé syndrome''', also '''Hornstein-Birt-Hogg-Dubé syndrome''',<ref name=pmid22581760>{{Cite journal \| last1 = Happle \| first1 = R. \| title = Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration. \| journal = Am J Med Genet A \| volume = 158A \| issue = 6 \| pages = 1247-51 \| month = Jun \| year = 2012 \| doi = 10.1002/ajmg.a.35330 \| PMID = 22581760 }}</ref> is constellation of findings due to a FLCN (folliculin) gene mutation.<ref name=omim135150>{{OMIM\|135150}}</ref> It is abbreviated '''BHD syndrome'''.