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Difference between revisions of "Von Hippel-Lindau disease"
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[[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> | 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> | ||
*[[Hemangioblastoma]]s. | *[[Hemangioblastoma]]s. | ||
*Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] ([[clear cell renal cell carcinoma]]). | *Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] ([[clear cell renal cell carcinoma]]). | ||
*[[Pheochromocytoma]] | *[[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> | ||
*Port-wine stains, skin lesion - looks like spilled wine; think [http://commons.wikimedia.org/wiki/File:Gorbatschow_DR-Forum_129_b2.jpg ''Mikhail Gorbachev'']. | *Port-wine stains, skin lesion - looks like spilled wine; think [http://commons.wikimedia.org/wiki/File:Gorbatschow_DR-Forum_129_b2.jpg ''Mikhail Gorbachev'']. | ||
*Eye dysfunction and Endolymphatic sac | *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) . | **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. | *[[Liver]] cysts, [[pancreas]] cysts ([[serous microcystic adenoma]]), pancreatic islet cell tumours & [[kidney]] cysts. | ||
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*[[Kidney tumours]]. | *[[Kidney tumours]]. | ||
*[[Neurocutaneous syndromes]]. | *[[Neurocutaneous syndromes]]. | ||
*[[Birt–Hogg–Dubé syndrome]]. | |||
*[[TCEB1-mutated renal cell carcinoma]]. | |||
==References== | ==References== | ||
{{reflist|2}} | {{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]] | ||