von Hippel-Lindau (VHL) disease is an autosomal-dominant familial cancer 
syndrome associated with mutations of the VHL tumor suppressor gene (3p25-26). 
Its estimated incidence ranges from 1 in 36,000 to 1 in 53,000 with a penetrance 
of up to 95% by age 60. Genotype-phenotype correlation divides VHL into two 
broad clinical subtypes. Type 1 VHL is predominantly associated with large 
deletion or truncation mutations which result in an encoded protein with very 
little or no activity. It is associated with retinal and CNS hemangioblastoma 
and renal cell carcinoma but not pheochromocytoma. Type 2 is usually associated 
with missense mutations encoding a protein with limited activity and includes 
pheochromocytoma. It is further classified into three other subtypes (2A, 2B, 
2C) based on the presence of hemangioblastoma and renal cell carcinoma. Visceral 
cysts in the kidney, pancreas and epididymis, nonfunctioning pancreatic 
neuroendocrine tumors which often show distinctive clear cell cytology, 
endolymphatic sac tumors and head and neck paragangliomas are well recognized 
but less common presenting features. Surveillance of carriers can reduce the 
burden of disease and is best performed in specialist referral centers with due 
consideration given to both the complex molecular pathogenesis and psychosocial 
aspects of the disease.