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 | * 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:
- Skin lesions (fibrofolliculoma, trichodiscoma, acrochordon).
- Renal tumours, chromophobe renal cell carcinoma most commonly.
- Other tumours seen, e.g. 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