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von Hippell-Lindau disease

Created: 9/11/2005

 

Von Hippel-Lindau disease

Introduction

  • von Hippel described the retinal lesions in 1904
  • link between the retinal lesions and the other stigmata of the syndrome was discovered by Lindau in 1927

Definition

Hereditary cancer syndrome that predisposes patients to

  • clear cell renal carcinoma (bilateral and multifocal) (40%)
  • retinal angiomas (60%)
  • renal cysts
  • pheochromocytomas (18%)
  • hemangiomas of the CNS (60%)
  • epididymal cystadenomas (10%)
  • pancreatic islet cell tumours

Incidence
Rare 1 in 36,000 births

Epidemiology
VHL is equal in men and women
RCC occurs at approximately 40 years of age

Genetics
Caused by a tumour suppressor gene
Located in short arm of chromosome 3 (3p24)
Found to be altered in majority of sporadic clear cell RCC’s

Figure 1
Clear cell renal carcinoma in VHL

Clear cell renal carcinoma in VHL

Figure 2
Pancreatic involvement in VHL

Pancreatic involvement in VHL



E von Hippel
Born 1867 Konigsberg
Studied at Heidelberg University
1914 Professor of Opthalmology Gottingen
Died 1939
Described familial retinal angiomatosis

von Hippell, E.
Uber eine sehr self seltene erkrankung der netzhaut
Klinische Beobachtungen Arch Opthalmol 1904; 59: 83-106

A Lindau
1892-1987
Swedish pathologist
Described the cerebellar and retinal angioblastomas as part of a larger angiomatous lesion syndrome

Lindau, A.
Studien ber kleinbirncysten bau: pathogenese und beziehungen zur angiomatous retinae
Acta Radiol Microbiol Scandinavica 1926;1(Suppl): 1-128


ArticleDate:20051109
SiteSection: Article
 
   
    
                                            



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