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Clinical features, diagnosis, and management of von Hippel-Lindau disease

Sharon E Plon, MD, PhD
Eric Jonasch, MD
Section Editors
Michael B Atkins, MD
Helen V Firth, DM, FRCP, DCH
Ronald D Perrone, MD
Amar Gajjar, MD
Mitchell E Geffner, MD
Deputy Editor
Michael E Ross, MD


Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. A VHL gene abnormality diagnostic for VHL syndrome is present in approximately 1 in 36,000 individuals [1-3].

The initial manifestations of disease can occur in childhood, adolescence, or adulthood, with a mean age at initial presentation of approximately 26 years [1]. The spectrum of VHL-associated tumors includes:

Hemangioblastomas of the brain (cerebellum) and spine

Retinal capillary hemangioblastomas (retinal angiomas)

Clear cell renal cell carcinomas (RCCs)

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Literature review current through: Oct 2017. | This topic last updated: Nov 01, 2017.
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