children s health issues
Neurofibromatosis
Introduction
Neurofibromatosis is a group of genetic disorders in which many soft, fleshy growths of nerve tissue (neurofibromas) form under the skin and in other parts of the body, and flat spots that are the color of coffee with milk (café-au-lait spots) often develop on the skin. Neurofibromatosis is caused by mutations in certain genes. In addition to growths under the skin and café-au-lait spots on the skin, people may have abnormalities in bone, incoordination, weakness, abnormal sensation, or hearing or vision problems. Doctors do a physical examination, consult established criteria, and sometimes do an imaging test of the head to check for lumps and growths. Growths can be removed surgically or, if cancerous, may be treated with radiation therapy or chemotherapy. Neurofibromatosis is a neurocutaneous syndrome. A neurocutaneous syndrome causes problems that affect the brain, spine, and nerves (neuro) and the skin (cutaneous). Neurofibromas are flesh-colored, noncancerous (benign) growths of Schwann cells (which form a wrapping around peripheral nerve fibers) and other cells that support Overview of the Peripheral Nervous System (the nerves outside the brain and spinal cord). A nerve cell (neuron) consists of a large cell body and nerve fibers—1 elongated extension (axon) for sending impulses and usually many branches (dendrites) for receiving impulses. The impulses from the axon cross a synapse (the junction between 2 nerve cells) to the dendrite of another cell. Many large nerve cells have axons that are surrounded by oligodendrocytes in the brain and spinal cord and by Schwann cells in the peripheral nervous system. The membranes of these cells consist of a fat (lipoprotein) called myelin. The membranes are wrapped tightly around the axon, forming a multilayered sheath. This myelin sheath resembles insulation, such as that around an electrical wire. Nerve impulses travel much faster in nerves with a myelin sheath than in those without one. Neurofibromas, which can be felt under the skin as small lumps, usually start appearing after puberty. 