Neurofibromatosis

An uncommon disorder that is inherited. Also called von Recklinghausen’s disease, neurofibromatosis is characterized by numerous neurofibromas (soft, fibrous swellings, varying significantly in size), which grow from nerves, and by café au lait spots (pale, coffee-coloured patches) on the skin, usually on the trunk and pelvis. If neurofibromas occur in the central nervous system, they may cause epilepsy and other complications. Neurofibromatosis can lead to bone deformities. Rarely, neurofibromas become cancerous. Surgical removal of neurofibromas is necessary only if there are complications. Anyone with this disorder, and parents of an affected child, should seek genetic counselling if planning a pregnancy.