Neurocutaneous syndromes

Women must make sure that they are receiving enough folic acid before they become pregnant, because the neural tube closes during the period about a week after the first missed menstrual period. This is why mothers cannot wait to start taking folic acid when they first realize they are pregnant. For this reason, it is recommended that women of reproductive age take folic acid throughout their reproductive years.

Folic acid is found naturally in green, leafy vegetables and in orange juice. In 1998 the U.S. Food and Drug Administration required the addition of folic acid to enriched grain products (such as breakfast cereals, breads, pastas, and rice), designed to provide an additional 100 micrograms of folic acid to a woman's daily diet. Still, to reach the recommended level of 400 micrograms daily, a vitamin supplement is usually necessary.

neurocutaneous syndromes A group of genetic neurological skin disorders affecting the brain, spine, and peripheral nerves that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. The most common syndromes involving children include neurofibromatosis, sturge-weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von hippel-lindau disease.

The first symptoms most commonly noted in children are skin lesions, including birthmarks, tumors, and other growths. All of the these diseases are believed to begin as a result of abnormal development of embryonic cells (primitive cells that are present in the earliest stages of an embryo's development). Although there is no cure for these conditions, treatments are available that help to manage symptoms and complications.

symptoms vary widely among these conditions and from child to child. Because neurocutaneous syndromes affect children in different ways, the full extent of these diseases may only appear as the child gets older. There are no cure for these conditions, which means that educational, social, and physical problems must be managed throughout a child's life.

support groups can be extremely helpful in providing a supportive social environment and information. psychotherapy can boost an affected child's self-esteem and coping skills and can help family members deal with the stress involved in caring for a child with a chronic illness or disability. Physical, occupational, or speech therapy can help the child improve some of the developmental delays caused by a specific illness.

neurofibromatosis (NF) One of the most common neurocutaneous syndromes that primarily affects the growth and development of nerve cells, causing tumors or neurofibromas that produce skin changes, bone deformities, eye problems, and other complications, especially in the brain. In 1882 neurofibromatosis (NF) was first described in medical literature by Dr. Friedrich von Recklinghausen, and the disease was known as Von Recklinghausen's disease for many years. NF affects more than 100,000 Americans, making this condition more common than cystic fibrosis, hereditary muscular dystrophy, Huntington's disease, and tay-sachs disease combined.

NF is not the "Elephant Man's disease," although it was at one time believed to be. Scientists now believe that John Merrick, the so-called Elephant Man, had Proteus syndrome, which is an entirely different disorder.


Although neurofibromatosis is usually inherited, between 30 percent and 50 percent of new cases occur from spontaneous mutations within a child's genes. However, once the gene is altered, it can then be passed on to succeeding generations. A parent with neurofibromatosis has a 50 percent chance of having a child with the disease, and the type of NF inherited by the child is always the same as that of the affected parent. NF is found throughout the world and affects both sexes equally; it has no particular racial, geographic, or ethnic distribution. Therefore, NF can appear in any family.


The disorder was originally divided into two different types—neurofibromatosis type 1 and type 2 (NF1 and NF2)—but in fact these two types are actually two totally separate disorders caused by two different genes.

Neurofibromatosis type 1 occurs far more frequently (about 90 percent of all cases) and is a very

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