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>
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>
*[[Hemanigoblastoma]]s.  
*[[Hemanigoblastoma]]s.  
*Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] (clear cell RCC).
*Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] (clear cell RCC).
*Pheochromocytoma.  
*Pheochromocytoma.  
*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 - retinal angioma.<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>
*Eye dysfunction and Endolymphatic sac tumours.<ref name=Ref_PSNP440>{{Ref PSNP|440}}</ref>
*[[Liver]] cysts, [[pancreas]] cysts (serous microcystic adenoma) & [[kidney]] cysts.
**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) .
*[[Liver]] cysts, [[pancreas]] cysts (serous microcystic adenoma), pancreatic islet cell tumours & [[kidney]] cysts.


Bare bones version:  
Bare bones version:  

Revision as of 01:16, 5 November 2010

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

  • Hemanigoblastomas.
  • Increased renal cancer (clear cell RCC).
  • Pheochromocytoma.
  • Port-wine stains, skin lesion - looks like spilled wine; think Mikhail Gorbachev.
  • Eye dysfunction and Endolymphatic sac tumours.[2]
    • Eye dysfunction = retinal angiomas,[3] (or retinal hemangioblastomas[2] -- depending on the source) .
  • Liver cysts, pancreas cysts (serous microcystic adenoma), pancreatic islet cell tumours & kidney cysts.

Bare bones version:

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

Prevalence

  • 1 in 40,000 live births.[4]

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. ↑ Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.
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