Difference between revisions of "Von Hippel-Lindau disease"

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(+epididymis)
m (+eye tumour)
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*[[Pheochromocytoma]], [[pancreatic neuroendocrine tumour]]s<ref name=pmid22370733>{{Cite journal  | last1 = Charlesworth | first1 = M. | last2 = Verbeke | first2 = CS. | last3 = Falk | first3 = GA. | last4 = Walsh | first4 = M. | last5 = Smith | first5 = AM. | last6 = Morris-Stiff | first6 = G. | title = Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature. | journal = J Gastrointest Surg | volume =  | issue =  | pages =  | month = Feb | year = 2012 | doi = 10.1007/s11605-012-1847-0 | PMID = 22370733 }}</ref> and [[papillary cystadenoma of the epididymis]].<ref name=pmid23708309>{{Cite journal  | last1 = Toutziaris | first1 = C. | last2 = Kampantais | first2 = S. | last3 = Perdikis | first3 = I. | last4 = Gourvas | first4 = V. | last5 = Laskaridis | first5 = L. | last6 = Gkagkalidis | first6 = K. | last7 = Lakis | first7 = S. | last8 = Ioannidis | first8 = S. | title = Papillary cystadenoma of epididymis: Is there a need for further investigation in unilateral cases? | journal = Int J Surg Case Rep | volume = 4 | issue = 7 | pages = 616-8 | month =  | year = 2013 | doi = 10.1016/j.ijscr.2013.03.038 | PMID = 23708309 }}</ref><ref name=pmid20367315>{{Cite journal  | last1 = Odrzywolski | first1 = KJ. | last2 = Mukhopadhyay | first2 = S. | title = Papillary cystadenoma of the epididymis. | journal = Arch Pathol Lab Med | volume = 134 | issue = 4 | pages = 630-3 | month = Apr | year = 2010 | doi = 10.1043/1543-2165-134.4.630 | PMID = 20367315 }}</ref>
*[[Pheochromocytoma]], [[pancreatic neuroendocrine tumour]]s<ref name=pmid22370733>{{Cite journal  | last1 = Charlesworth | first1 = M. | last2 = Verbeke | first2 = CS. | last3 = Falk | first3 = GA. | last4 = Walsh | first4 = M. | last5 = Smith | first5 = AM. | last6 = Morris-Stiff | first6 = G. | title = Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature. | journal = J Gastrointest Surg | volume =  | issue =  | pages =  | month = Feb | year = 2012 | doi = 10.1007/s11605-012-1847-0 | PMID = 22370733 }}</ref> and [[papillary cystadenoma of the epididymis]].<ref name=pmid23708309>{{Cite journal  | last1 = Toutziaris | first1 = C. | last2 = Kampantais | first2 = S. | last3 = Perdikis | first3 = I. | last4 = Gourvas | first4 = V. | last5 = Laskaridis | first5 = L. | last6 = Gkagkalidis | first6 = K. | last7 = Lakis | first7 = S. | last8 = Ioannidis | first8 = S. | title = Papillary cystadenoma of epididymis: Is there a need for further investigation in unilateral cases? | journal = Int J Surg Case Rep | volume = 4 | issue = 7 | pages = 616-8 | month =  | year = 2013 | doi = 10.1016/j.ijscr.2013.03.038 | PMID = 23708309 }}</ref><ref name=pmid20367315>{{Cite journal  | last1 = Odrzywolski | first1 = KJ. | last2 = Mukhopadhyay | first2 = S. | title = Papillary cystadenoma of the epididymis. | journal = Arch Pathol Lab Med | volume = 134 | issue = 4 | pages = 630-3 | month = Apr | year = 2010 | doi = 10.1043/1543-2165-134.4.630 | PMID = 20367315 }}</ref>
*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 tumour]]s.<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><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) .
**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 17:17, 3 March 2015

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.[8]

Pancreatic neuroendocrine tumour

Main article: Pancreatic neuroendocrine tumour
  • AKA pancreatic islet cell tumour

In VHL these have distinct morphology:

Trivia

VHL gene is found on chromosome 3.[10]

See also

References

  1. ↑ URL: http://www.medicalmnemonics.com/pdf/2002_09_full_abr_8x11.pdf. Accessed on: 11 September 2008.
  2. ↑ Charlesworth, M.; Verbeke, CS.; Falk, GA.; Walsh, M.; Smith, AM.; Morris-Stiff, G. (Feb 2012). "Pancreatic Lesions in von Hippel-Lindau Disease? A Systematic Review and Meta-synthesis of the Literature.". J Gastrointest Surg. doi:10.1007/s11605-012-1847-0. PMID 22370733.
  3. ↑ Toutziaris, C.; Kampantais, S.; Perdikis, I.; Gourvas, V.; Laskaridis, L.; Gkagkalidis, K.; Lakis, S.; Ioannidis, S. (2013). "Papillary cystadenoma of epididymis: Is there a need for further investigation in unilateral cases?". Int J Surg Case Rep 4 (7): 616-8. doi:10.1016/j.ijscr.2013.03.038. PMID 23708309.
  4. ↑ Odrzywolski, KJ.; Mukhopadhyay, S. (Apr 2010). "Papillary cystadenoma of the epididymis.". Arch Pathol Lab Med 134 (4): 630-3. doi:10.1043/1543-2165-134.4.630. PMID 20367315.
  5. ↑ 5.0 5.1 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.
  6. ↑ 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.
  7. ↑ 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/.
  8. ↑ Singh AD, Shields CL, Shields JA (2001). "von Hippel-Lindau disease". Surv Ophthalmol 46 (2): 117–42. PMID 11578646.
  9. ↑ 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.
  10. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 608537

External links

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