Introduction Von Hippel-Lindau (VHL) disease is a rare genetic neoplastic disease characterized by the growth of tumors and cysts in the central nervous system, kidneys, adrenals, pancreas, and reproductive organs. The condition is named after German ophthalmologist Ernst von Hippel, who first studied the characteristic retinal angiomas in 1904, and Arvid Landau, who was the first to establish a connection between cerebellar hemangioblastoma and the retinal angiomas. 1 Pathophysiology The disease is caused due to mutations in the VHL gene, a tumor suppressor gene found on chromosome 3 (3p25-26).
It is an autosomal dominant disorder. Genetics The VHL gene consists of three exons and encodes the signal transduction VHL protein. 2 The gene follows the two-hit hypothesis where tumor formation only occurs as a result of a second somatic mutation in addition to a germline mutation of the…
