Difference between revisions of "Birt–Hogg–Dubé syndrome"
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'''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'''. | ||
==Features== | |||
* Skin lesions | BHD syndrome is characterized by:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | ||
* Renal tumours | * Skin lesions: | ||
** | **Fibrofolliculoma. | ||
**Trichodiscoma. | |||
**[[Acrochordon]]. | |||
* Renal tumours: | |||
**[[Chromophobe renal cell carcinoma]] - most common. | |||
**[[Renal oncocytoma]]. | |||
* Variable penetrance (autosomal dominant). | * Variable penetrance (autosomal dominant). | ||
Revision as of 15:40, 7 January 2013
Birt–Hogg–Dubé syndrome, also Hornstein-Birt-Hogg-Dubé syndrome,[1] is constellation of findings due to a FLCN (folliculin) gene mutation.[2] It is abbreviated BHD syndrome.
Features
BHD syndrome is characterized by:[3]
- Skin lesions:
- Fibrofolliculoma.
- Trichodiscoma.
- Acrochordon.
- Renal tumours:
- Chromophobe renal cell carcinoma - most common.
- Renal oncocytoma.
- Variable penetrance (autosomal dominant).
See also
References
- ↑ Happle, R. (Jun 2012). "Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.". Am J Med Genet A 158A (6): 1247-51. doi:10.1002/ajmg.a.35330. PMID 22581760.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 135150
- ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 290. ISBN 978-0781765275.