Difference between revisions of "Von Hippel-Lindau disease"

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*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 tumours.<ref name=Ref_PSNP440>{{Ref PSNP|440}}</ref>
*Eye dysfunction and Endolymphatic sac tumours.<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> -- 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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