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Difference between revisions of "Birt–Hogg–Dubé syndrome"
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Birt–Hogg–Dubé syndrome (view source)
Revision as of 04:40, 19 November 2017
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==Features== | ==Features== | ||
BHD syndrome is characterized by:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref> | BHD syndrome is characterized by:<ref name=Ref_WMSP290>{{Ref WMSP|290}}</ref><ref name=pmid27220747>{{Cite journal | last1 = Furuya | first1 = M. | last2 = Yao | first2 = M. | last3 = Tanaka | first3 = R. | last4 = Nagashima | first4 = Y. | last5 = Kuroda | first5 = N. | last6 = Hasumi | first6 = H. | last7 = Baba | first7 = M. | last8 = Matsushima | first8 = J. | last9 = Nomura | first9 = F. | title = Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome. | journal = Clin Genet | volume = 90 | issue = 5 | pages = 403-412 | month = Nov | year = 2016 | doi = 10.1111/cge.12807 | PMID = 27220747 }}</ref> | ||
* Skin lesions: | * Skin lesions of face, neck and anterior trunk (~80% of individuals with syndrome): | ||
**Fibrofolliculoma. | **Fibrofolliculoma. | ||
**Trichodiscoma. | **Trichodiscoma. | ||
**[[Acrochordon]]. | **[[Acrochordon]]. | ||
* Renal tumours: | * Renal tumours (~25-35% of individuals): | ||
**[[Chromophobe renal cell carcinoma]] - most common. | **[[Chromophobe renal cell carcinoma]] - most common. | ||
**[[Renal oncocytoma]]. | **[[Renal oncocytoma]]. | ||
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**[[Renal cell carcinoma, unclassified]]. | **[[Renal cell carcinoma, unclassified]]. | ||
* Variable penetrance (autosomal dominant). | * Variable penetrance (autosomal dominant). | ||
* Lung cysts - inferior to carina. | * Lung cysts - inferior to carina (~80% of individuals with syndrome)). | ||
**Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal | last1 = Johannesma | first1 = PC. | last2 = Houweling | first2 = AC. | last3 = Menko | first3 = FH. | last4 = van de Beek | first4 = I. | last5 = Reinhard | first5 = R. | last6 = Gille | first6 = JJ. | last7 = van Waesberghe | first7 = JT. | last8 = Thunnissen | first8 = E. | last9 = Starink | first9 = TM. | title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? | journal = Fam Cancer | volume = 15 | issue = 2 | pages = 297-300 | month = Apr | year = 2016 | doi = 10.1007/s10689-015-9853-5 | PMID = 26603437 }}</ref> | **Multiple basal lung cysts - may be significant.<ref name=pmid26603437>{{Cite journal | last1 = Johannesma | first1 = PC. | last2 = Houweling | first2 = AC. | last3 = Menko | first3 = FH. | last4 = van de Beek | first4 = I. | last5 = Reinhard | first5 = R. | last6 = Gille | first6 = JJ. | last7 = van Waesberghe | first7 = JT. | last8 = Thunnissen | first8 = E. | last9 = Starink | first9 = TM. | title = Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis? | journal = Fam Cancer | volume = 15 | issue = 2 | pages = 297-300 | month = Apr | year = 2016 | doi = 10.1007/s10689-015-9853-5 | PMID = 26603437 }}</ref> | ||
**[[Spontaneous pneumothorax]] (~25% of individuals with syndrome).<ref name=pmid27220747/> | |||
Note: | Note: | ||