Difference between revisions of "Von Hippel-Lindau disease"

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m (+eye tumour)
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*[[Neurocutaneous syndromes]].
*[[Neurocutaneous syndromes]].
*[[Birt–Hogg–Dubé syndrome]].
*[[Birt–Hogg–Dubé syndrome]].
*[[TCEB1-mutated renal cell carcinoma]].


==References==
==References==

Revision as of 07:44, 12 June 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

  • 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