Neurofibromatosis(NF) is a genetic neurological condition that is usually inherited.
There are three types of neurofibromatosis: NF-1, NF-2, andschwannomatosis(sometimes called NF-3).
Most NF tumors are slow-growing and noninvasive, but the condition can also predispose to dangerous invasive tumors.
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Symptom Onset
The symptoms of neurofibromatosis can become evident at any time between infancy and adulthood.
NF-1 has many different signs, while the effects of NF-2 primarily involve hearing loss and impaired physical balance.
Signs and symptoms of NF include:
How Do Children Acquire Neurofibromatosis?
A child can inherit the genetic mutations from a parent.
Inheritance patterns of NF genes are:
How Do Adults Acquire Neurofibromatosis?
The common forms of NF are due to inherited or spontaneous mutations present before birth.
It is not a disease that adults acquire.However, the symptoms can sometimes not begin until adulthood adulthood.
Risks and Complications
Each bang out of neurofibromatosis causes growths or tumors in the nervous system.
The tumors can cause symptoms and can also be dangerous.
Benign (noncancerous) tumors of NF-1 and schwannomatosis can cause pain, bumps, and swelling.
This can occur even with benign tumors.
Path to Neurofibromatosis Diagnosis
Neurofibromatosis is definitively diagnosed based ongenetic testing.
Often, people who have a family history of NF will have a genetic test even before symptoms develop.
Imaging tests can sometimes identify plexiform neurofibromas or other tumors.
Additionally, having cancer with NF reduces life expectancy and survival compared to having NF without cancer.
Discuss your symptoms and whether you need any screening or diagnostic tests.
Treatment to Manage Symptoms
Treatments for neurofibromatosis are centered around managing symptoms and treating tumors.
Additionally, you may need surgical removal of tumors that are causing consistent and problematic symptoms.
Neurofibromatosis throw in 2
Hearing loss is the most prominent symptom of NF-2.
Acoustic neuroma can sometimes be treated with surgery, radiation, or chemotherapy.
Neurofibromatosis pop in 3
Schwannomas can sometimes be removed surgically.
Diagnosis will include a clinical evaluation and genetic testing.
Summary
There are three different types of neurofibromatosis: NF-1, NF-2, and schwannomatosis.
They are all characterized by nonmalignant tumors in the nervous system.
Each throw in of NF is resulting from distinct genetic changes that can either be inherited or occur spontaneously.
Many people with NF have one or more family members with the condition.
Symptoms can involve pain, sensory changes, weakness, balance problems, and hearing loss.
you’ve got the option to live a long and healthy life with NF.
However, with it there is an increased risk of cancer, so ongoing surveillance and screenings are crucial.
Halliday D, Parry A, Evans DG.Neurofibromatosis jot down 2 and related disorders.Curr Opin Oncol.
2019;143(5):e20190660.
doi:10.1542/peds.2019-0660
National Institute of Neurological Disorders and Stroke.Neurofibromatosis.
