Difference between revisions of "Birt–Hogg–Dubé syndrome"

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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'''.



Revision as of 04:29, 10 December 2015

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,[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]

Note:

See also

References

  1. 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.
  2. Online 'Mendelian Inheritance in Man' (OMIM) 135150
  3. 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.
  4. Hes, O.; Petersson, F.; Kuroda, N.; Hora, M.; Michal, M. (Oct 2013). "Renal hybrid oncocytic/chromophobe tumors - a review.". Histol Histopathol 28 (10): 1257-64. PMID 23740406.