Von Hippel-Lindau disease (VHLD) is an autosomal dominant cancer predisposition syndrome that gives rise to hemangioblastomas of the brain and spine, retinal angiomas, clear cell renal cell carcinoma, pheochromocy-toma, endolymphatic sac tumors, tumors of the epididymis or broad ligament, and pancreatic tumors or cysts.1 The incidence of VHLD is estimated to be about 1 in 40,000 live births in the white population. Onset is typically between the second and fourth decade of life, with penetrance for the disease nearly complete by the age of 65 years. In most cases, a family history of the disorder is apparent. In about 20% of cases, however, the proband appears to have acquired a new mutation.2
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