Difference between revisions of "Von Hippel-Lindau disease"
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*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> -- 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. | ||
Bare bones version: | Bare bones version: | ||
Revision as of 18:00, 27 August 2011
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]
- 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]
Pancreatic islet cell tumours
In VHL these have distinct morphology:
- Clear cells[5] - unusual in neuroendocrine tumours.
- Fibrosis. (???)
See also
References
- ↑ URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
- ↑ 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.
- ↑ 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.
- ↑ 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.