Neurofibromatosis type 1 NF1 is a genetic condition. It causes benign not cancerous tumors to grow in and under the skin, often with bone, hormone , and other problems. They're very different conditions. NF1 can never become NF2 or the other way around, and a person can have only one type of neurofibromatosis. A third type of NF, schwannomatosis , is very rare.
Most people with this type don't have symptoms until they're adults. Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. Children with NF1 may be slower to walk, talk, and reach other milestones than most kids. They also may have:. These happen when there's a problem in the way cells communicate in one of the body's pathways.
Children with neurofibromatosis type 1 have cells that don't make neurofibromin as they should. A: Definitely — in fact, NF is most often diagnosed clinically, and many patients with NF never undergo genetic testing. Q: Are neurofibromas contagious? A: Not at all. NF1 is a genetic disorder, meaning that if your child has it, it was already in her genes when she was born. A: No. Q: Are there any dietary modifications that might help my child?
Q: Are the clinical problems treatable? A: Yes, and your child should be cared for by NF1 specialists who are familiar with treating the condition in children. A: Unfortunately, NF1 is highly unpredictable. Severe complications are rare.
Q: Is there anything else that can cause these symptoms? A: Yes, there are some other rare conditions. A: No, all factors of NF1 are independent:. Q: Could I have another child with NF1? A: Yes, because anyone can have a child with NF1. Q: Is there any way to know whether I will have another child with NF1? A: Prenatal diagnosis is available, although it is not possible to know what symptoms of NF1 a child may have.
Talk to your genetic counselor for more information and to discuss testing options in more detail. Q: Should my other children be tested for NF1? A: If your other children have any signs of NF1, they should be evaluated. Q: Is it possible to have NF1 and not know it? Q: Should the parents be evaluated for NF1? A: Yes, if the parent is showing signs or symptoms of NF1. Q: Will my child be able to have children? Q: If my child becomes a parent some day, will his children also have NF1?
After your child is diagnosed with neurofibromatosis, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you. If your child is old enough, you might suggest that she write down some questions to ask her health care providers, too.
It can be hard enough to be a teenager without having to deal with a chronic condition like NF1. This is usually when neurofibromas tend to develop, and this can be very upsetting for someone who may be beginning to take a special interest in her appearance.
The only difference between the child and the parent in these circumstances is the severity of NF and the appearance of symptoms. The presence of only one changed or affected gene can cause the disorder to appear.
However, the action of the unaffected gene that is paired with the dominant gene does not prvent the disorder from appearing. People with NF can make two different kinds of reproductive cells: one that can cause a child to have NF and the other that will produce an unaffected child, if that is the gene that happens to be used. When an unaffected individual conceives a child with a person with NF, there are four possible cell combinations - two combinations that will yield a child with NF and the other two that will yield an unaffected child.
Genetics Home Reference: Neurofibromatosis Type 1. Genetics Home Reference: Neurofibromatosis Type 2. Genetic Testing Registry: Neurofibromatosis Type 1. Genetic Testing Registry: Neurofibromatosis Type 2.
March of Dimes: Neurofibromatosis. About Neurofibromatosis. What is neurofibromatosis? What are the symptoms of neurofibromatosis? Manifestation of freckles under the armpits or in the groin areas.
Appearance of tiny tan clumps of pigment in the iris of the eyes Lisch nodules. Tumors along the optic nerve of the eye optic glioma. Severe curvature of the spine scoliosis. Enlargement or malformation of other bones in the skeletal system.
Symptoms for neurofibromatosis type 2 include: Tumors along the eighth cranial nerve schwannomas. Meningiomas and other brain tumors. Cataracts at a young age. Freckling can occur in other conditions, but not with the other symptoms and concerns of NF1. A tumor of the optic pathway called an optic pathway glioma. These tumors typically first appear by age 6, rarely in late childhood and adolescence, and almost never in adults.
Although they can affect vision, most do not become symptomatic. Bone deformities Abnormal development of the eye socket sphenoid or the tibia one of the long bones of the shin. Short stature and larger than normal head circumference Children with NF1 are usually shorter than average and have larger heads. Cardiovascular complications , such as congenital heart defects, high blood pressure hypertension , and constricted, blocked, or damaged blood vessels.
NF1 should be evaluated periodically by an NF1 specialist, even if they are not experiencing symptoms, to evaluate for signs or symptoms that may indicate a need for treatment and to provide reassurance that treatment is not needed when appropriate. In April the U. Food and Drug Administration approved selumetinib Koselugo as a treament for children ages 2 years and older wth neurofibromatosis type 1.
The drug helps to stop tumor cells from growing. Neurofibromatosis 2 NF2 is less common than NF1. Approximately 50 percent of affected people inherit the abnormal gene familial ; in others the condition is caused by a spontaneous genetic mutation in the NF2 gene.
Each child of an affected parent has a 50 percent chance inheriting the abnormal NF2 gene. Benign, slow-growing tumors affecting the cranial, spinal, and peripheral nerves, as well as the covering of the brain and spinal cord called the meninges.
Visual problems. People with NF2 may develop cataracts at an earlier age or changes in the retina that can affect vision. Peripheral neuropathy. Individuals with NF2 may develop problems with nerve function , usually numbness and weakness on both sides of the body with or without muscle loss in the arms and legs. While teenagers and adults often are first seen for hearing and balance problems, young children with NF2 more commonly seek initial medical attention due to vision problems and meningiomas.
Signs of NF2 may be present in childhood but can be overlooked, especially in children who do not have a family history of NF2. Children are often first seen by a doctor because of schwannomas in the skin, vision loss from retinal abnormalities or tumors, seizures, or weakness related to spinal cord compression. More commonly, symptoms of NF2 are first noticed in the second decade of life. The most common first symptom is hearing loss or ringing in the ears tinnitus related to vestibular schwannomas.
Less often, the first visit to a doctor will be because of disturbances in balance, visual impairment, focal weakness in an arm or leg, seizures, or skin tumors.
NF2 is best managed at a specialty clinic with an initial screening and annual follow-up evaluations more frequent if the disease is severe.
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