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 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 [[renal cancer]] (clear cell RCC). | *Increased [[Kidney_tumours#Hereditary_RCC|renal cancer]] (clear cell RCC). | ||
*Pheochromocytoma. | *Pheochromocytoma. | ||
*Port-wine stains. | *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. | *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> | ||
*Liver cysts, | *[[Liver]] cysts, [[pancrea]]s cysts (serous microcystic adenoma) & [[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> | |||
==See also== | ==See also== | ||
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==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] |
Revision as of 12:36, 26 August 2010
The 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 - retinal angioma.[2]
- Liver cysts, pancreas cysts (serous microcystic adenoma) & kidney cysts.
Bare bones version:
- Hippel-Lindau, with H and L as above.
Prevalence
- 1 in 40,000 live births.[3]
See also
References
- ↑ URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
- ↑ 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.
- ↑ Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.