48,830
edits
Difference between revisions of "Birt–Hogg–Dubé syndrome"
Jump to navigation
Jump to search
tweak
m (fix sp.) |
(tweak) |
||
| Line 1: | Line 1: | ||
'''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). | ||