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Don’t fight Neurofibromatosis type 1 alone.
Find your community on the free RareGuru App.Neurofibromatosis type 1 (NF1) is a genetic condition characterized primarily by changes in skin color and the growth of benign (non-cancerous) tumors along the nerves of the skin, brain, and other parts of the body. The severity and specific features can vary greatly from person to person. NF1 belongs to a group of related conditions called the RASopathies. These conditions have some overlapping signs and symptoms and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. NF1 is caused by changes (mutations) in the NF1 __ gene and is inherited in an autosomal dominant manner. In about 50% of cases, it is inherited from an affected parent. Other cases result from a new ( de novo ) mutation, occurring for the first time in people with no family history of NF1. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
People affected by neurofibromatosis type 1 (NF1) have an increased risk of developing many different types of tumors both benign (noncancerous) and malignant (cancerous). Almost all people with NF1 have neurofibromas, which are benign tumors that can affect nearly any nerve in the body. Most will develop these tumors on or just underneath the skin; however, neurofibromas can also grow in other places in the body and may even affect multiple nerves. Malignant peripheral nerve sheath tumors, which also grow along the nerves throughout the body, are the most common cancerous tumor found in people with NF1 and occur in approximately 10% of affected people. In children with NF1, the most common tumors are optic glioma (tumors that grow along the nerve leading from the eye to the brain) and brain tumors. Optic gliomas associated with NF1 are often asymptomatic although they can lead to vision loss.
Other features of NF1 may include:
GeneReviews Web site offers more specific information about the signs and symptoms of NF1.
Last updated on 05-01-20
Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1.
People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the genetic disorder. For a tumor to form, two copies of the NF1 gene must be mutated. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
Last updated on 05-01-20
The diagnosis of neurofibromatosis type 1 (NF1) is usually based on the presence of characteristic signs and symptoms. Specifically, doctors look for two or more of the following features to make a diagnosis of NF1:
Because many of the signs and symptoms associated with NF1 develop with age, it can sometimes take several years to make a diagnosis in children who do not have a family history of the condition.
Genetic testing for changes (mutations) in the NF1 gene is available, but it is often not necessary. Prenatal testing and preimplantation genetic diagnosis is only an option if the disease-causing mutation in the family is known.
Last updated on 05-01-20
Neurofibromatosis type 1 (NF1) is inherited in an autosomal
dominant manner.
This means that a person needs a change
(mutation) in only one copy
of the gene associated with
the disease to have a genetic
predisposition
to the tumors associated with NF1.
In approximately half of cases, the person with NF1 inherits the mutation from
a parent with the genetic disease. Other cases may result from new ( de
novo) mutations in the
gene; these cases occur in people with no history of the disorder in their
family. A person with NF1 has a 50% chance with each pregnancy of passing
along the mutated gene to his or her child.
Last updated on 05-01-20
The long-term outlook (prognosis) for people with neurofibromatosis type 1 (NF1) varies based on the severity of the condition and the signs and symptoms present in each person. Although people with NF1 can live relatively long and healthy lives, their life expectancy tends to be lower than in the general population.
The most common causes of death in people with NF1 are hypertension, symptoms related to spinal cord tumors, and malignancy. Fortunately, early detection and prompt attention to complications associated with NF1, including tumors and cancers can improve quality of life and survival of the condition.
Last updated on 05-01-20
The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1.
Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant (cancerous) peripheral nerve sheath tumors are generally completely removed with surgery (complete surgical excision), although some cases may also require chemotherapy. Radiation therapy is not recommended because it may increase the risk of the tumors to become malignant. Most optic gliomas associated with NF1 do not cause any symptoms and, therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1.
GeneReviews Web site offers more specific information for the treatment and management of NF1.
Last updated on 05-01-20
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