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Difference between revisions of "Von Hippel-Lindau disease"
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The '''von Hippel-Lindau syndrome''' is characterized by (mnemonic: ''HIPPEL''):<ref>URL: [http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf]. Accessed on: 11 September 2008.</ref> | [[Image:Clear_cell_renal_cell_carcinoma_-_2_--_intermed_mag.jpg|thumb|right|[[Clear cell renal cell carcinoma]] a tumour seen in von Hippel-Lindau disease. [[H&E stain]].]] | ||
*[[ | The '''von Hippel-Lindau disease''', also '''von Hippel-Lindau syndrome''' is characterized by (mnemonic: ''HIPPEL''):<ref>URL: [http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf]. Accessed on: 11 September 2008.</ref> | ||
*Increased [[renal cancer]] (clear cell | *[[Hemangioblastoma]]s - brain and [[hemangioblastoma of the kidney]]. | ||
*Pheochromocytoma. | *Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] ([[clear cell renal cell carcinoma]]). | ||
*Port-wine stains. | *[[Pheochromocytoma]], [[pancreatic neuroendocrine tumour]]s<ref name=pmid22370733>{{Cite journal | last1 = Charlesworth | first1 = M. | last2 = Verbeke | first2 = CS. | last3 = Falk | first3 = GA. | last4 = Walsh | first4 = M. | last5 = Smith | first5 = AM. | last6 = Morris-Stiff | first6 = G. | title = Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature. | journal = J Gastrointest Surg | volume = | issue = | pages = | month = Feb | year = 2012 | doi = 10.1007/s11605-012-1847-0 | PMID = 22370733 }}</ref> and [[papillary cystadenoma of the epididymis]].<ref name=pmid23708309>{{Cite journal | last1 = Toutziaris | first1 = C. | last2 = Kampantais | first2 = S. | last3 = Perdikis | first3 = I. | last4 = Gourvas | first4 = V. | last5 = Laskaridis | first5 = L. | last6 = Gkagkalidis | first6 = K. | last7 = Lakis | first7 = S. | last8 = Ioannidis | first8 = S. | title = Papillary cystadenoma of epididymis: Is there a need for further investigation in unilateral cases? | journal = Int J Surg Case Rep | volume = 4 | issue = 7 | pages = 616-8 | month = | year = 2013 | doi = 10.1016/j.ijscr.2013.03.038 | PMID = 23708309 }}</ref><ref name=pmid20367315>{{Cite journal | last1 = Odrzywolski | first1 = KJ. | last2 = Mukhopadhyay | first2 = S. | title = Papillary cystadenoma of the epididymis. | journal = Arch Pathol Lab Med | volume = 134 | issue = 4 | pages = 630-3 | month = Apr | year = 2010 | doi = 10.1043/1543-2165-134.4.630 | PMID = 20367315 }}</ref> | ||
*Eye dysfunction. | *Port-wine stains, skin lesion - looks like spilled wine; think [http://commons.wikimedia.org/wiki/File:Gorbatschow_DR-Forum_129_b2.jpg ''Mikhail Gorbachev'']. | ||
*Liver cysts, pancreas cysts (serous microcystic adenoma) & kidney cysts. | *Eye dysfunction and [[Endolymphatic sac tumour]]s.<ref name=Ref_PSNP440>{{Ref PSNP|440}}</ref> | ||
**Eye dysfunction = retinal angiomas,<ref name=pmid10804089>{{cite journal |author=Harris AL |title=von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy |journal=Oncologist |volume=5 Suppl 1 |issue= |pages=32–6 |year=2000 |pmid=10804089 |doi= |url=http://theoncologist.alphamedpress.org/cgi/content-nw/full/5/suppl_1/32/T1}}</ref> (or ''retinal hemangioblastomas''<ref name=Ref_PSNP440>{{Ref PSNP|440}}</ref><ref name=pmid17057815>{{Cite journal | last1 = Chew | first1 = EY. | title = Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. | journal = Trans Am Ophthalmol Soc | volume = 103 | issue = | pages = 495-511 | month = | year = 2005 | doi = | PMID = 17057815 | PMC = 1447586 | URL = http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447586/ }}</ref> -- depending on the source) . | |||
*[[Liver]] cysts, [[pancreas]] cysts ([[serous microcystic adenoma]]), pancreatic islet cell tumours & [[kidney]] cysts. | |||
Bare bones version: | Bare bones version: | ||
*Hippel-Lindau, with H and L as above. | *Hippel-Lindau, with H and L as above. | ||
==Prevalence== | |||
*1 in 40,000 live births.<ref name=pmid11578646>{{cite journal |author=Singh AD, Shields CL, Shields JA |title=von Hippel-Lindau disease |journal=Surv Ophthalmol |volume=46 |issue=2 |pages=117–42 |year=2001 |pmid=11578646 |doi= |url=}}</ref> | |||
==Pancreatic neuroendocrine tumour== | |||
{{Main|Pancreatic neuroendocrine tumour}} | |||
*[[AKA]] ''pancreatic islet cell tumour'' | |||
In VHL these have distinct morphology: | |||
*Clear cells<ref name=pmid10740008>{{Cite journal | last1 = Musso | first1 = C. | last2 = Paraf | first2 = F. | last3 = Petit | first3 = B. | last4 = Archambeaud-Mouveroux | first4 = F. | last5 = Valleix | first5 = D. | last6 = Labrousse | first6 = F. | title = [Pancreatic neuroendocrine tumors and von Hippel-Lindau disease]. | journal = Ann Pathol | volume = 20 | issue = 2 | pages = 130-3 | month = Mar | year = 2000 | doi = | PMID = 10740008 }}</ref> - unusual in [[neuroendocrine tumours]] otherwise. | |||
*Fibrosis. (???) | |||
==Trivia== | |||
VHL gene is found on chromosome 3.<ref name=omim608537>{{OMIM|608537}}</ref> | |||
==See also== | ==See also== | ||
*[[Adrenal gland]]. | |||
*[[Kidney tumours]]. | *[[Kidney tumours]]. | ||
*[[ | *[[Neurocutaneous syndromes]]. | ||
*[[Birt–Hogg–Dubé syndrome]]. | |||
*[[TCEB1-mutated renal cell carcinoma]]. | |||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
==External links== | |||
*[http://www.vhl.org/wordpress/medical-professionals/when-to-suspect-vhl/ When to suspect VHL (vhl.org)]. | |||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||