Neurofibromatosis. Clinical overview.
Neurofibromatosis is a relatively common genetic disorder of the peripheral and central nervous systems. Virtually all organ systems can be involved, either directly or through neural or vascular influences. Children and adults may be affected; management may become difficult due to mental retardation, learning and behavior disorders, and seizures. Because the condition is inherited in autosomal-dominant fashion, one may have to deal with family members who also have these medical, neurologic, and psychologic problems. Benign or malignant tumors may be found in the brain, spinal cord, and somatic and autonomic peripheral nerves. Malignant tumors may involve the airway, the gastrointestinal tract, the genitourinary tract, and the blood vessels. Clinicians caring for these patients must be aware of these protean manifestations in addition to problems involving their own areas of expertise.
Brill
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Thomas Jefferson University, Philadelphia, PA 19107.
D005799:Genes, Dominant; D006801:Humans; D009423:Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*