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Tuesday, February 5, 2008

Von Hippel-Lindau disease (VHL).

Von Hippel-Lindau disease is a dominantly inherited familial cancer syndrome caused by mutations in VHL tumor suppressor gene. It is a rare multi-system disorder of autosomal dominant inheritance with high penetrance and is characterized by abnormal growth in blood vessels. While blood vessels grow like trees, in people with VHL little knots of blood capillaries occur. VHL syndrome is characterized by the presence of haemangioblastomas in the brain, spinal cord and retina with associated involvement of kidneys, liver, spleen, pancreas, adrenals and thyroid gland. Tumors may be either non-cancerous or cancerous. Signs and symptoms of von Hippel-Lindau syndrome can occur throughout life .
Systemic manifestations of VHL are as follows:
  • Retina
  • Central Nervous System
  • Labyrinth
  • Lung
  • Heart
  • Kidney
  • Bladder
  • Epididymis/testis
  • Broad ligament
  • Adrenal gland
  • Pancreas
  • Liver
  • Spleen
  • Skin
  • Bone
  • Miscellaneous --- Omental and mesenteric cysts and paraganglioma.
Rare manifestations include cerebral (upper brain) hemangioblastoma, and rare occurrences of hemangioma in liver, spleen and lung.

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