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Von Hippel-Lindau Disease

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Von Hippel-Lindau disease (VHL) is an autosomal dominant familial neoplasia syndrome that results from a germline mutation of the VHL gene on the short arm of chromosome 3. It is characterized by the development of central nervous system (CNS) and visceral lesions. CNS lesions include retinal, cerebellar, brainstem and spinal hemangioblastomas, and endolymphatic sac tumors (ELSTs). Visceral lesions include renal cell carcinomas (RCC), renal cysts, pheochromocytomas, pancreatic cysts and neuroendocrine tumors, as well as cystadenomas of the epididymis and broad ligament (Fig. 1).

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Authors and Affiliations

  1. Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive Building 10, Room 5D37, Bethesda, MD, 20892-1414, USA

    S. Taylor Jarrell MD, Edward H. Oldfield MD & Russell R. Lonser MD

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  1. S. Taylor Jarrell MD
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  2. Edward H. Oldfield MD
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  3. Russell R. Lonser MD
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Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Jarrell, S.T., Oldfield, E.H., Lonser, R.R. (2008). Von Hippel-Lindau Disease. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_6

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_6

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