1. NEUROFIBROMATOSIS noo r-oh-fahy-broh-muh-toh-sis
Hard to pronounce,
harder to live with…

2. What is it???
Neurofibromatosis is an incurable, genetic disorder of the nervous system. It mainly affects the development of nerve cell tissues. Tumors known as neurofibromas develop on the nerves, and these can lead to other problems.
The tumors may be harmless, or they may compress the nerves and other tissues, leading to serious damage.

3. Types of Neurofibromatosis
The three types of neurofibromatosis are Nf1, Nf2, and schwannomatosis.

4. Neurofibromatosis 1
NF1 is the most common type of neurofibromatosis. Also known as von Recklinghausen's disease, von Recklinghausen NF, or peripheral neurofibromatosis.
It is transmitted on chromosome 17. It mostly results from a mutation, rather than a deletion, of the Nf1 gene.
It is thought to affect 1 in every 3,000 people.
Shortly after birth, birthmarks may appear in different parts of the body.
During late childhood, lesions, or tumors, may appear on or under the skin, numbering from a few to thousands. Occasionally, the tumors become cancerous.Nf1 can be barely noticeable, it can be unsightly, or it can lead to potentially serious complications. Around 60 percent of cases are minor.

5. Neurofibromatosis 2
Nf2 is a more serious condition in which tumors grow on nerves deep inside the body.
An acoustic neuroma is a common kind of brain tumor that develops on the nerve that goes from the brain to the inner ear.
Symptoms may include: Facial numbness, weakness and sometimes paralysis. Gradual, or more rarely hearing loss, loss of balance, dizziness, and vertigo. Tinnitus, or ringing in the affected ear
Symptoms may worsen as the tumor grows. The neuroma may compress the brainstem, which can be life-threatening. A small tumor may not cause any problems.
Sometimes, tumors develop on the skin, brain, and spinal cord, with potentially serious consequences. Some tumors develop rapidly, but most grow slowly, and the effect may not be noticeable for several years.
Regular monitoring can enable tumors to be removed before complications arise.
Spots of light brown pigmentation may occur, but they will less common and fewer in number than in patients with Nf1.Cataracts may occur. If a child develops a cataract, this may be a sign of Nf2. These are easily removed, and not generally problematic, if treated.

6. Schwannomatosis
Schwannomatosis is a rare form of neurofibromatosis, genetically distinct from Nf1 and Nf2.
It affects fewer than 1 in 40,000 people.
Schwannomas, or tumors in the tissue around a nerve, can develop anywhere in the body, except for the vestibulocochlear nerve, the nerve that goes to the ear.
It does not involve the neurofibromas characteristic of Nf1 and Nf2.The tumors can cause severe pain, numbness, tingling, and weakness in the toes and fingers.

7. Symptoms Birthmarks and freckles are a common sign of Nf1.
Neurofibromatosis can affect all neural crest cells, including Schwann cells, melanocytes, and endoneurial fibroblasts. It may affect the bones, causing severe pain.
The disorder can spread throughout the whole body, leading to tumors and unusual skin pigmentation.
It can manifest as bumps under the skin, colored spots, bone problems, pressure on spinal nerve roots, and other neurological problems.
Learning disabilities, behavioral problems, and vision or hearing loss may arise.

8. Diagnosis
Nf1 is normally diagnosed during childhood. A diagnosis is confirmed when a patient has at least two of the following:
Family history of Nf1
A glioma, or tumor, on the optic nerve, usually without symptoms
Lesions in the bone
At least six café-au-lait spots measuring more than 5 millimeters across in children or 15 millimeters in adolescents and adults
At least two Lisch nodules, or small brown spots in the iris
Freckling in the armpits, under the breast, or in the groin area
Two or more neurofibromas, or one "plexiform”
Plexiforms affect around  25 percent of people with Nf1. Plexiforms are neurofibromas that spread around large nerves as they grow, causing the nerve to become thick and misshapen. They feel like knots or cords under the skin. They can be large, painful and disfiguring. Plexiforms normally start to form during childhood.
A special lamp is used to check for skin marks. Other diagnostic tools include an X-ray, CT or MRI scan, and a genetic blood test.

9. Diagnosis
Symptoms of Nf2 normally appear around puberty or in adulthood.
The most common age of onset tends to be from 18 to 24 years.
A diagnosis of Nf2 is made when there is:
Acoustic neuroma in one ear, plus two or more typical symptoms, such as cataracts, brain tumors, and a family history of the condition
Acoustic neuroma in both ears
Acoustic neuroma plus brain or spinal tumors, detected by an MRI or CT scan
A faulty gene, identified through a blood test
A person with Nf2 will be referred to a neurologist. Hearing and eye tests will check for cataracts, other eye problems, and hearing problems.