Introduction: Von Hippel-Lindau (VHL) syndrome is a disease characterized by the formation of tumors or cysts in many different parts body caused germline. The prevalence this autosomal dominant condition very rare. Understanding clinical manifestasion and diagnostic criteria needed.
 Case Report: Female, 22-year-old was reffered from orthopaedic department suffered blurred misalignment le...

Endolymphatic sac tumor (ELST) is a papillary epithelial neoplasm arising within the endolymphatic sac/duct that shows a high association with von Hippel-Lindau disease (VHL). There is usually a VHL tumor suppressor gene germline mutation with an autosomal dominant inheritance pattern. Approximately 1 in 35,000 to 40,000 people have VHL, of which approximately 10 to 15% have endolymphatic sac t...

Ten members of a large family who showed manifestations of either von Hippel-Lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestat...