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.
n. either of two hereditary conditions inherited as autosomal *dominant traits and characterized by benign tumours growing from the fibrous coverings of nerves (see neurofibroma). In neurofibromatosis type I (von Recklinghausen’s disease), in which the abnormal gene is found on chromosome 17, numerous tumours affect the peripheral nerves. The tumours can be felt beneath the skin along the course of the nerves; they may become large, causing disfigurement, and rarely they become malignant, giving rise to neurofibrosarcomas. Pigmented patches on the skin (see café au lait spots) are commonly found and *Lisch nodules are present. Neurofibromatosis type II presents with bilateral *vestibular schwannomas (causing hearing loss) and *meningiomas. The abnormal gene is on chromosome 22.
Health Encyclopedia