Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. The tumors are generally non cancerous.
The cause is a genetic mutation in certain genes. In half of cases these are inherited from a person's parents while in the rest they occur during early development. The tumors involve supporting cells in the nervous system rather than the neurons. In NF1 the tumors are neurofibromas (tumors of the peripheral nerves) while in NF2 and schwannomatosis tumors of Schwann cells are more common. Diagnosis is typically based on the signs and symptoms and occasionally supported by genetic testing.
There is no known prevention or cure. Surgery may be done to remove tumors that are causing problems or have become cancerous. Radiation and chemotherapy may also be used if cancer occurs. A cochlear implant or auditory brainstem implant may help some who have hearing loss.
In the United States about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2. Males and females are affected equally frequently. In NF1 symptom are often present at birth and otherwise develop before 10 years of age. While the condition typically worsens with time most people with NF1 have a normal life expectancy. In NF2 symptoms may not become apparent until early adulthood. NF2 increases the risk of early death. Descriptions of the condition occur as far back as the 1st century.
NF TYPE 1
Signs and symptoms
Neurofibromatosis (NF1) in early life may cause learning and behavior problems – about 60% of children who have NF1 have a mild form of difficulty in school. In terms of signs the individual might have are the following:
- Six or more light brown dermatological spots ("café au lait spots")
- At least two neurofibromas
- At least two growths on the eye's iris
- Abnormal growth of the spine (scoliosis)
Neurofibromatosis type I is most notable by the dark brown spots it causes on the skin, called cafe au lait spots. The disease is also apparent from soft, fleshy, benign tumors called neurofibromas that develop on or under the skin. Neurofibromas occurring on the skin often resemble skin tags. Almost all people with neurofibromatosis develop very small growths on the irises of the eye called Lisch nodules. Lisch nodules do not affect vision.
Cause
Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well.The affected child could have mild NF1 even though inherited from a parent with a severe form of the disorder. The types of neurofibromatosis are:
- Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues.
- Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.
- Schwannomatosis, in which painful schwannomas develop on spinal and peripheral nerves.
The effects of neurofibromatosis on bone and spine
In infants and children, neurofibromatosis type I can interfere with the development of the spine. The disease can affect the protective covering of the spine, called the dura. Increased pressure in the spinal fluid due to neurofibromas of the spinal nerves can result in dural ectasia, which is a ballooning out of a sac that contains the cerebrospinal fluid. This condition may result in pain in the back and limbs, bladder control problems, and numbness in severe cases.
Neurofibromatosis may cause tumors on an around the spinal cord. Even benign tumors in this area can cause pain and weakness in the most severe cases.
Scoliosis, an irregular side curvature of the spine from left to right, and kyphosis, or a rounded or forward angulated back, occur together or separately in about one in five people with neurofibromatosis type I.
Osteoporosis is common among neurofibromatosis type I sufferers, who generally have lower bone density by age than healthy individuals.
NF TYPE 2
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.
The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.
The Children’s Tumor Foundation celebrates NF Awareness Month and World NF Awareness Day (May 17th) for lots of reasons: to put NF in the national (and international) limelight, to foster hope in the NF community, and to create wonderful fundraising opportunities for the innovative NF research supported by Children’s Tumor Foundation.
Neurofibromatosis Type 1
Symptoms of NF1 include
- harmless, flat, light brown spots (café-au-lait spots) that appear at birth or during early childhood
- noncancerous tumors (neurofibromas) that typically grow close to the skin but may also occur deeper in the body; commonly occurs between ages 10 and 15
- freckles in the armpit, groin, other skin folds
- clumps of pigment in the colored portion of the eye
- a tumor on the nerve that connects the eye to the brain
- bone or skeletal problems, such as bowed legs or curvature of the spine
- learning disabilities, hyperactivity
- speech and vision problems
- headaches and seizures
- oversized head in children
- short stature
- high blood pressure.
The symptoms of NF1 tend to get worse over time.
Neurofibromatosis type 2
People with this disorder typically develop slow-growing, non-cancerous tumors on a specific nerve in the brain. Early symptoms usually involve hearing and balance problems. Some people also develop cataracts. Some develop other kinds of tumors.
Symptoms of NF2 include
- hearing loss, often in both ears
- ringing in the ears
- problems with balance, dizziness
- weakness, numbness, or tingling in an arm or leg
- vision problems such as cataracts (clouding of the eye's natural lens)
- facial numbness
- problems with speech and swallowing
- frequent and persistent headaches
- seizures.
Schwannomatosis
This disorder causes tumors on nerves of the brain and spinal cord and nerves in the arms and legs. Symptoms include intense pain that can occur in anywhere in the body. The pain is caused by tumors pressing on nerves or tissue. Numbness or tingling in the fingers and toes can also occur.
Diagnosis
Test for NF usually include:
- Complete physical and medical history. Your doctor checks for general signs of disease, health habits, and past illnesses and treatments. The doctor will also ask what medical conditions family members have or have had.
o determine if a person has NF1, doctors look for at least two of the following:
- six or more café-au-lait spots
- neurofibromas
- freckles in the armpit or groin
- pigment clumps in the eye
- a tumor on the optic nerve
- bone problems in the spine, skull, or leg
- a parent, sibling, or child with NF1.
To determine if a person has NF2, doctors looksfor tumors on specific nerves. They also look for
- a family history of the disease
- certain eye tumors
- cataracts that start during childhood.
Although the skin problems connected with NF1 often appear at birth or shortly afterwards, other symptoms typically don't appear until later. With NF2, tumors grow slowly and may not be found for many years—usually during the teens and early 20s.
Prevention
NF occurs when a gene suddenly changes. Right now, there is no way to prevent this disease. With NF1 and NF2, a parent with an abnormal gene has a 50% chance of passing it on to each of his or her children. Tests can be performed during pregnancy to determine whether a fetus carries the defective gene
Treatment
Treatment for NF depends on
- the patient's age, health, and medical history
- the symptoms
- which nerves are affected
- the expected progression of the disease.
Although there is no known cure for NF, surgery and other treatments can help to relieve symptoms. A person with NF may have several medical specialists to treat the disease.
When To Call a Professional
Contact your doctor if you or your child has symptoms of NF.
Prognosis
NF progresses differently for each person. It is hard to predict the course of the disease. A person's prognosis depends on the types and locations of tumors that he or she develops.
Neurofibromatosis type 1: Most people will have mild to moderate symptoms that worsen over time. Patients can live normal and productive lives. In some cases, however, NF1 can affect quality of life.
Neurofibromatosis type 2: These tumors generally grow slowly. Balance and hearing may become worse over time. Sometimes tumors grow next to vital structures, such as the brain. If they are not treated, this situation can be serious.
Schwannomatosis: Some patients have mild pain, but most have significant pain. Pain can be managed with treatment.
Learn more about Neurofibromatosis
{ Over and out} - Egypt A. Assanti [ aka ] Big Sister Southern "( Baroness) "
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