Neurofibromatosis Symptoms
Neurofibromatosis (NF), also called Recklinghausen's disease and von Recklinghausen's disease
is a genetic neurological disorder that can affect the brain, spinal cord,
nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or
underneath the skin. Neurofibromatosis has been classified into two distinct
types: neurofibromatosis type 1 (NF1) and NF2. NF1 is the more common of the
two. It occurs in approximately 1 in 4,000 births. NF2, also referred to as
bilateral acoustic, central or vestibular Neurofibromatosis, occurs less
frequently, 1 in
40,000 births. Occurrences of NF1 and NF2 are present among all racial groups
and affect both sexes equally. The tumors arise from changes in the nerve cells
and skin cells. Tumors also may press on the body's vital areas as their size
increases. NF may lead to developmental abnormalities and/or increased chances
of having learning disabilities. Other forms of NF, where the symptoms are not
consistent with that of NF1 or NF2, have been observed. A rare form of neurofibromatosis
is schwannomatosis. However, the genetic cause of this form of NF has not been
found.
Symptoms of Neurofibromatosis
Symptoms for type 1 include:
- 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).
- Presence of light brown sports on the skin.
- Appearance of two or more neurofibromas (pea-sized bumps) that can grow
either on the nerve tissue, under the skin or on many nerve tissues.
- 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 NF1 vary for each individual. Those that are skin-related are
often present at birth, during infancy and by a child's tenth birthday. From
ages 10 to 15, neurofibromas may become apparent. Symptoms such as cafι-au-lait
spots, freckling and Lisch nodules pose minimal or no health risk to a person.
Though neurofibromas are generally a cosmetic concern for those with NF1, they
can sometimes be psychologically distressing. For 15 percent of individuals with
NF1, the symptoms can be severely debilitating. Neurofibromas can grow inside
the body and may affect organ systems. Hormonal changes at puberty and/or even
pregnancy may increase the size of neurofibromas. Nearly 50 percent of children
with NF1 have speech problems, learning disabilities, seizures and
hyperactivity. Less than one percent of those affected with NF1 may have
malignant tumors and may require treatment.
Symptoms for type 2 include:
- Tumors along the eighth cranial nerve (schwannomas).
- Meningiomas and other brain tumors.
- Ringing noises inside the ear (tinnitus), hearing loss and/or deafness.
- Cataracts at a young age.
- Spinal tumors.
- Balance problems.
- Wasting of muscles (atrophy).
Individuals with NF2 develop tumors that grow on the eighth cranial nerves
and on the vestibular nerves. These tumors often cause pressure on the acoustic
nerves, which result in hearing loss. Hearing loss may begin as early as an
individual's teenage years. Tinnitus, dizziness, facial numbness, balance
problems and chronic headaches may also surface during the teenage years.
Numbness may also occur in other parts of the body, due to spinal cord tumors.
The rare form of NF, schwannomatosis, which was recently identified, does not
develop on the eighth cranial nerves, and does not cause hearing loss. It causes
pain primarily, and in any part of the body. Though schwannomatosis may also
lead to numbness, weakness or balance problems like NF1 or NF2, the symptoms are
less severe.
Neurofibromatosis Symptoms to N
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