Difference between revisions of "Von Hippel-Lindau disease"

From Libre Pathology
Jump to navigation Jump to search
(fix sp.)
m (more)
Line 5: Line 5:
*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.


Revision as of 15:08, 27 February 2012

The von Hippel-Lindau disease, also von Hippel-Lindau syndrome is characterized by (mnemonic: HIPPEL):[1]

Bare bones version:

  • Hippel-Lindau, with H and L as above.

Prevalence

  • 1 in 40,000 live births.[5]

Pancreatic islet cell tumours

In VHL these have distinct morphology:

Trivia

VHL gene is found on chromosome 3.[7]

See also

References

  1. ↑ URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
  2. ↑ 2.0 2.1 Perry, Arie; Brat, Daniel J. (2010). Practical Surgical Neuropathology: A Diagnostic Approach: A Volume in the Pattern Recognition series (1st ed.). Churchill Livingstone. pp. 440. ISBN 978-0443069826.
  3. ↑ Harris AL (2000). "von Hippel-Lindau syndrome: target for anti-vascular endothelial growth factor (VEGF) receptor therapy". Oncologist 5 Suppl 1: 32–6. PMID 10804089. http://theoncologist.alphamedpress.org/cgi/content-nw/full/5/suppl_1/32/T1.
  4. ↑ Chew, EY. (2005). "Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations.". Trans Am Ophthalmol Soc 103: 495-511. PMC 1447586. PMID 17057815. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447586/.
  5. ↑ Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.
  6. ↑ Musso, C.; Paraf, F.; Petit, B.; Archambeaud-Mouveroux, F.; Valleix, D.; Labrousse, F. (Mar 2000). "[Pancreatic neuroendocrine tumors and von Hippel-Lindau disease].". Ann Pathol 20 (2): 130-3. PMID 10740008.
  7. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608537
Retrieved from "https://librepathology.org/w/index.php?title=Von_Hippel-Lindau_disease&oldid=13410"