Neurofibromatosis, Type 2 (NF-2)
NF-2 is a more rare disorder of the nervous system. Common
symptoms of NF-2 usually show up around age 19-20 and may
include:
• Hearing loss or ringing in the ears.
• Dizziness or balance problems.
• Headaches or seizures.
NF-2 is also usually diagnosed by a list of diagnostic criteria.
An individual is diagnosed with NF-2 if the following are present:
1. Bilateral eighth nerve masses seen with appropriate imaging
techniques (MRI, CT)
2. A first-degree relative with NF-2 and either:
a. unilateral eighth nerve mass, or
b. two of the following:
1) neurofibroma
2) meningioma
3) glioma
4) schwannoma
5) juvenile posterior subcapsular lenticular opacity
In rare instances, cases of NF occur that are not consistent with NF-1
or NF-2, or have features of both. Very little is known about these rare
conditions.
Some Other General Facts About Neurofibromatosis
NF is equally common in males and females and in every racial and
ethnic group.
NF-1 affects one in 4,000 babies born. NF-2 affects one in 45,000
babies born.
Fifty percent of the people inherit the disease from a parent.
Fifty percent of the people have NO family history of NF and their
disease is the result of a spontaneous gene mutation.
For individuals who have NF, there is a fifty percent chance that their
child will be born with NF.
At the present time, there is no means of prevention, no effective
treatment, and no cure for neurofibromatosis.
Neurofibromatosis, Type 1 (NF-1)
NF-1 is also known as von Recklinghausen's disease, after the
doctor who first described it in 1882. There are a wide variety of
symptoms associated with NF-1. Symptoms show up by age 2 in
about ½ of the cases. In most cases, symptoms are mild and
patients live a normal life. These common symptoms include:
• Six or more large tan spots on the skin (café-au-lait marks), which
are present at birth, and may increase with age.
• Small benign tumors under the skin, called neurofibromas, which
usually occur at adolescence and can number from one to hundreds.
These may increase during pregnancy or puberty, because of
hormonal changes.
• Tumors may grow on the optic nerves and in rare cases interfere
with vision. These tumors are the single most common sign of NF-1
in adults and can exist when no other symptoms are present.
• A variety of bone defects may be present at birth.
NF-1 is usually diagnosed by a list of diagnostic criteria.
An individual is diagnosed with NF-1 is 2 or more of the following are
present:
1. Six or more café-au-lait spots over 5 mm in diameter in pre-
pubertal individuals and over 15 mm in post-pubertal individuals.
2. Two or more neurofibromas of any type or one plexiform
neurofibroma (a large, diffuse tumor).
3. Freckling in the axillary (armpit) or inguinal (groin) regions.
4. Optic glioma (tumor on the optic nerve).
5. Two or more Lisch nodules in the iris of the eye (clumps of
pigment in the colored part of the eye).
6. A distinctive osseous lesion such as phenoid dysplasia or thinning
of the long bone cortex with or without pseudoarthritis (in the leg)
7. A 1st degree relative (parent, sibling, or offspring) with NF-1 by the
above criteria.
