Classification
Neurofibromatosis is a neuroectodermal abnormality that compromises the skin, nervous system, bones, eyes and/or other areas. It affects all races and both sexes. It is genetic in about half the cases and the other half the disease emerged as part of a new mutation. There are eight classes with NF1 being the most dominant. NF1 is an inherited autosomal dominant condition so if one parent has the disease, his/her children have a 50% chance of also developing the condition.
Diagnosis, signs and symptoms
A clinical diagnosis for NF1 is the most common. A positive diagnosis will be made if two or more of the following signs or symptoms must be present:
• six or more light brown spots on the skin (commonly referred to as “café-au-lait spots), measuring more than 5 mm in diameter in children or more than 15 mm in adolescents and adults;
• two or more neurofibromas, or one plexiform neurofibroma (one that involves many nerves);
• freckling in the in the area of the armpit or groin;
• two or more growths on the iris of the eye (called Lisch nodules or iris hamartomas);
• a tumor on the optic nerve (called an optic nerve glioma)
• abnormal development of the spine(scoliosis), the temple(sphenoid) bone of the skull, or the tibia;
• a parent, sibling, or child with NF1.
Other symptoms of NF1 commonly seen children are larger than normal head circumference and shorter than average heights. Abnormal buildup of fluid in the brain, is also a possible complication of the disorder. Headache and epilepsy are more likely in individuals with NF1 than in healthy people. Cardiovascular complications associated with NF1 include congenital heart defects, high blood pressure (hypertension), and constricted, blocked, or damaged blood vessels (vasculopathy). Children with NF1 may have poor language and visual-spatial skills, and perform less well on academic achievement tests, including those that measure reading, spelling, and math skills. Learning disabilities, such as attention deficit hyperactivity disorder (ADHD) are also common in children with NF1.
Genetic testing can be conducted to diagnose NF1 by taking a blood sample. This can be used as a confirmation test following a clinical diagnosis, but results are not always clear. Three possible test results are: Positive (mutation in NF1 gene was found); Negative (no mutation found); or Inconclusive (results were neither positive nor negative).
IQ and other standardized tests can be given to determine the severity of learning disabilities.
Symptoms are usually evident at birth or shortly after, and almost always by the time a child is 10 years old and a definitive diagnosis may take several years.
Treatment
Basically, most treatments for the conditions of NF1 are aimed at controlling or relieving symptoms not curing the disease. Tumors that become symptomatic and possibly cancerous can be surgically removed but there is no general agreement among doctors about when surgery should be performed or which surgical option is best. Depending on the type and location of tumors, chemotherapy and radiation therapy may also be used. Headaches and seizures are treated with medications. Learning disabilities and ADHD, medications and behavioral therapy are options.
Prognosis
NF1 is a progressive disorder which means the symptoms will worsen over time. Although many studies have been done, it is not possible to predict the course of each individual’s disorder. Most people with NH1 will develop mild to moderate symptoms and have a normal life expectancy. However, severe cases can reduce the life span of the person because the tumors that develop in certain parts of the body can become cancerous. In some cases, neurofibromas on or under the skin can increase with age and cause cosmetic and psychological issues. .
Prevention
According to Stanley J. Swierzewski, III, M.D “Neurofibromatosis cannot be prevented. People with a family history of the disease may choose to undergo genetic testing and counseling to determine if they are at risk for transmitting NF to their offspring.” This is the consensus of the medical community. According to multiple on-line sources, the best hope for preventing NF lies in identifying the underlying causes of genetic mutations. When it is known that there is a family history of NF1, genetic counseling (where the risk of an inherited disorder are discussed in detail) may help in family planning. If a couple knows there is a chance for the disease to spread through children they have, they may choose to not have children which could reduce the instances of the disease.