Difference between revisions of "Birt–Hogg–Dubé syndrome"
Jump to navigation
Jump to search
| Line 13: | Line 13: | ||
**[[Renal oncocytoma]]. | **[[Renal oncocytoma]]. | ||
**[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal | last1 = Hes | first1 = O. | last2 = Petersson | first2 = F. | last3 = Kuroda | first3 = N. | last4 = Hora | first4 = M. | last5 = Michal | first5 = M. | title = Renal hybrid oncocytic/chromophobe tumors - a review. | journal = Histol Histopathol | volume = 28 | issue = 10 | pages = 1257-64 | month = Oct | year = 2013 | doi = | PMID = 23740406 }}</ref> | **[[Renal hybrid oncocytic/chromophobe tumour]].<ref name=pmid23740406>{{Cite journal | last1 = Hes | first1 = O. | last2 = Petersson | first2 = F. | last3 = Kuroda | first3 = N. | last4 = Hora | first4 = M. | last5 = Michal | first5 = M. | title = Renal hybrid oncocytic/chromophobe tumors - a review. | journal = Histol Histopathol | volume = 28 | issue = 10 | pages = 1257-64 | month = Oct | year = 2013 | doi = | PMID = 23740406 }}</ref> | ||
**[[Renal cell carcinoma, unclassified]]. | |||
* Variable penetrance (autosomal dominant). | * Variable penetrance (autosomal dominant). | ||
Revision as of 22:08, 18 November 2017
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:
- Variable penetrance (autosomal dominant).
Note:
- May be seen with a mix of oncocytic renal tumours - known as renal oncocytosis.
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.
- ↑ 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.