No. NF1 and NF2 are not passed from person to person, like a cold or a virus. Instead, NF1 and NF2 are genetic conditions that begin at birth.
Half of the time, NF1 can arise for the first time in a child who does not have parents with NF1. This is called a “new mutation” or “spontaneous mutation.” It means that a change in the NF1 gene occurred in the egg or sperm or during early fetal development to result in a child with NF1. There is nothing that the parents did to make this happen. Scientists do not know why these changes (or mutations) arise spontaneously in children of people without NF1 but believe that it is a random or chance event.
It is very unusual to develop features of NF1 for the first time as an adult. As children mature, new features of NF1 may be found, such as freckling in the armpits and groin (diaper) region, small lumps and bumps (benign neurofibromas), larger plexiform neurofibromas and colored spots on a part of the eye called the iris (Lisch nodules).
Everybody with NF1 is different, even if they come from the same family.
No, NF1 and NF2 are completely different medical conditions.
Children with NF do not outgrow their NF. Once you are born with NF1 or NF2, you will have NF1 or NF2 for your entire life.
Your NF specialist will perform a detailed examination to determine whether you or your child has NF1. The diagnosis of NF1 is established based on a list of very specific features that include café-au-lait macules, skinfold freckling, Lisch nodules, neurofibromas, optic glioma, bone abnormalities, and the presence of a family member with NF1. If your NF specialist finds two or more of these features, the diagnosis of NF1 will be given.
While it is possible to have NF1 without café-au-lait macules, it is very rare. Café-au-lait macules refer to the birthmarks seen in people with NF1 and are the single most common feature of the condition. They are frequently first found in young children and can darken during the summer months when children play outside. As people become adults, café-au-lait macules can fade and may become difficult to see.
Café-au-lait macules are typically a bit darker than the surrounding skin. In Caucasians, they will appear as lightly colored spots, while in African Americans, they will be darker. Very darkly colored birthmarks may not be café-au-lait macules.
Café-au-lait macules are areas of increased skin coloration. Unlike other dark skin patches in adults (called nevi), these do not turn into tumors. If you or your child has a dark, raised patch, you should see a dermatologist.
It is highly unusual for a child to have skinfold freckling (under the arms or along the bikini folds) and not have NF1; however, it is also easy to mistake something completely unrelated for skinfold freckling. If you think your child has skinfold freckling, you should have him or her examined by an NF specialist.
Children with NF1 are at risk for a variety of developmental delays. However, some children with NF1 experience no delays at all. At this time, we do not have an accurate way of determining which child will encounter a delay.
There are a number of reasons that people with NF1 may be shorter than their peers. First, children born to parents who are short are typically shorter than average. Second, the curvature of the spine (scoliosis) can cause a person to be shorter. Third, some children with NF1 who are short may have lower levels of brain hormones that control growth.
Yes. Recent studies have shown that it is not uncommon for adults with NF1 to have low bone mineral densities and low vitamin D levels. In some of these adults, supplementation with calcium and vitamin D (cholecalciferol) improved low bone density and prevented fractures.
There is a large range of IQ scores in children with NF1. However, researchers have found that children with NF1 have lower IQ scores on average than their unaffected brothers and sisters. While true mental retardation in children with NF1 is rare, specific learning deficits, attention problems, and motor skill delays are common in children with NF1. Each of these problems can affect performance on the IQ test and result in lower-than-average IQ scores.
Individuals with NF1 or NF2 do not progress from NF1 or NF2 to another medical condition. While people with NF1 or NF2 may develop a number of medical problems, these problems are most often related to having NF rather than resulting from a second medical condition.
In most people, NF1 is not a life-threatening condition. However, there are rare situations where medical problems arising in people with NF1 can be serious. For example, people with NF1 and a plexiform neurofibroma may develop an uncommon cancer called a malignant peripheral nerve sheath tumor (MPNST). Although MPNSTs are rare, people who have an MPNST frequently pass away from it.
While most people with NF1 develop tumors as they get older, typically cutaneous neurofibromas, it is not possible to predict who will develop a brain tumor, a plexiform neurofibroma, a malignant peripheral nerve sheath tumor, or some other type of tumor.
Some adults with NF1 will have no limitations at all, whereas others may have more difficulty as a result of a medical complication of NF1, like a plexiform neurofibroma. If you think you child has difficulty functioning in their daily life, please speak with your NF specialist about occupational or physical therapy.
Currently, there is much research focused on identifying treatments to stop the growth of tumors in people with NF1. However, there is no cure at this time. In addition to medical treatments, children and adults also benefit from other therapies, such as physical, occupational, and speech therapy.
You should speak with your NF specialist about medications and therapies for NF1.
Children with NF1 are more likely to have attention or social perception problems. While ADHD and autism can be unrelated to NF1, the increased incidence of these problems in people with NF1 suggests that they are caused by NF1.