Symptoms present at birth or symptoms that develop later in life can help doctors determine which of the three main types of neurofibromatosis or NF a patient has. This knowledge helps medical providers look for and treat other symptoms of the disease.
Neurofibromatosis symptoms vary in appearance and severity, even between family members with the same neurofibromatosis type. Some patients only have mild symptoms. In addition to observing the NF symptoms noted here, your doctor may send you for genetic testing to confirm a diagnosis or rule out other disorders.
NF 1 symptoms have distinct characteristics that help doctors diagnose and then treat the disease. Skin-related symptoms of NF 1 are usually present at birth, during infancy or by age 10. From ages 10 to 15, neurofibromas may develop or enlarge. Also, normal changes in hormones during puberty or pregnancy can cause neurofibromas to get larger.
Many of these symptoms pose little or no health complications and may be considered cosmetic. However, symptoms can be psychologically distressing or, in some cases, physically painful. In addition, neurofibromas that grow in the body have the potential to negatively affect internal organs or bones. Some tumors may grow over the eye and affect vision. Here are some common symptoms of NF 1:
Approximately 50% of children with symptoms of neurofibromatosis type 1 have speech and learning problems, seizures and hyperactivity. Less than 1% of those with NF 1 symptoms have malignant (cancerous) tumors requiring treatment.
NF type 2 symptoms may appear in adolescence or early adulthood. The first indication of NF type 2 may be hearing issues. Other symptoms of the disease may include the following:
Schwannomatosis is a recently identified and rare form of neurofibromatosis. Unlike the other two types of NF, it does not develop along the eighth cranial nerve or cause hearing loss. Instead, it causes pain in any part of the body. Any weakness or numbness symptoms are also less severe than those associated with the other types of NF.
Searching on the internet and viewing images of neurofibromatosis can be frightening. It is important to know that pictures of mild cases do not always show up on image searches. Many patients have mild symptoms. It is essential to have a neurofibromatosis expert evaluate your symptoms. A neurofibromatosis specialist will be aware of the newest research and treatments to help manage the symptoms of the disease. Schedule an appointment with Dr. Weinberg to be evaluated and to discuss neurofibromatosis skin treatments.
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