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

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It is characterized by:
It is characterized by:
* Skin lesions (fibrofolliculoma, trichodiscoma, [[acrochordon]]).
* Skin lesions (fibrofolliculoma, trichodiscoma, [[acrochordon]]).
* Renal tumours, [[chromophobe renal cell carcioma]] most commonly.
* Renal tumours, [[chromophobe renal cell carcinoma]] most commonly.
** Other tumours seen, e.g. [[renal oncocytoma|oncocytoma]].
** Other tumours seen, e.g. [[renal oncocytoma|oncocytoma]].
* Variable penetrance (autosomal dominant).
* Variable penetrance (autosomal dominant).

Revision as of 15:29, 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.

It is characterized by:

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