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Von Hippel-Lindau Disease
		Uploaded: 2007-11-16, Updated: 2007-11-16


CLINICAL FEATURES
	Autosomal dominant. Frequency: 1/30,000 - 40,000. Characteristics of congenital capillary angiomatous hamartomas of the retina and the optic nerve. Usually presents in the second to third decade of life
GENETIC MUTATIONS
	VHL gene: chromosome 3 (3p25-p26), a typical tumor suppressor gene.
PATHOLOGY FEATURES
	Retinal hemangioblastomas or capillary hemangiomas (von Hippel disease): in 50% of patients. CNS hemangioblastomas (von Hippel-Lindau disease): in 25% of patients, especially the cerebellum, brain stem, and spinal cord. Adrenal pheochromocytoma Pancreas: cysts and tumors including neuroendocrine tumor and cystadenoma. Kidney: cyst, renal cell carcinoma and hypernephroma. Epididymis: papillary cystadenoma. Inner ear/temporal bone: papillary endolymphatic sac tumor.
SUBTYPES
	Type 1 (angiomatosis without pheochromocytoma) Type 2 (angiomatosis with pheochromocytoma) Type 2A (with renal cell carcinoma) Type 2B (without renal cell carcinoma) Type 2C (only pheochromocytoma and no angiomatosis or renal cell carcinoma)
REFERENCES
	AFIP, tumor of the kidney, bladder and related urinary structures, series 4; AFIP, tumor of the central nervous system, series 4; Robbins & Cotran Pathologic Basis of Disease, 7th edition. http://www.emedicine.com/oph/topic354.htm