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Neurofibromatosis – Pictures, Symptoms, Causes, Treatment

Updated on November 18, 2013

Neurofibromatosis refers to a set of genetic neurological disorders that brings forth the growth of tumors on the body's nerves as well as the skin. This condition typically affects the nerves, spinal cord, brain and the skin. There are three types of neurofibromatosis, namely the NF1, NF2 and Schwannomatosis. All three forms are the result of faulty genes which could be inherited or may develop during conception. Aside from tumors growing in different parts of the body, this condition may also result in learning disabilities and developmental aberrations.

Types of Neurofibromatosis

Neurofibromatosis (NF) has three distinct types – NF1, NF2 and Schwannomatosis. Both NF1 and d NF2 occur in all kinds of population, regardless of race and gender. Alterations in the skin and nerve cells give rise to the formation of tumors which increase in size. As these tumors grow larger, they could press on vital organs of the body and cause other symptoms. Schwannomatosis, on the other hand, is the rare kind and had just been discovered. Its characteristics quite vary from the first two types.

  • Neurofibromatosis 1 (NF1)

This is also referred to as Von Recklinghausen NF named after the German physician, Frederich von Recklinghausen, who first described the condition. NF1 or Peripheral NF, is the most common of the three types, affecting about 1 in 4000 births. Since NF1 is a syndrome, it has a set of characteristics that accompany each other. It is typified by the formation of tumors, or neurofibromas underneath or on the skin. Sometimes, tumors may also grow on the spinal cord, cranial nerves as well as the brain. Furthermore, brown patches on the skin, or cafe-au-lait spots, likewise appear. Many cases of NF1 are considered mild without significant effects on the health. Although others develop serious health concerns and about a half suffer from learning difficulties. The severity of NF1 indeed differs greatly between individuals and even between family members.

The symptoms of NF1 include:

  • Cafe-au-lait patches

  • Freckles

  • Lisch nodules

  • Neurofibromas

  • Plexiform neurofibromas

  • Skeletal problems like scoliosis

  • Increase risk of cancer

  • Neurofibromatosis 2 (NF2)

NF2 is not as common as NF1 affecting only one in 25,000 births. It is also known as central NF or bilateral NF. The distinctive symptom of this type of NF is the loss of hearing starting in adolescence as tumors grow on both auditory nerves. In addition, lesions on the spinal cord and brain as well as numerous tumors in the spinal and cranial nerves will develop. These may have effects on speech, swallowing and movement of the eyes.

The other symptoms of NF2 are:

  • Atrophy

  • Cataract

  • Deafness

  • Dizziness

  • Headaches

  • Numbness in the face and other parts of the body

  • Meningionomas

  • Problems in balance

  • Schwannomas or tumors that grow on the eighth cranial nerve

  • Spinal tumors

  • Tinnitus or ringing sound in the ear

  • Other brain tumors

  • Schwannomatosis

This is the rarest type of neurofibromatosis and the latest to be identified. It occurs in approximately 1 out of 40,000 births. The main symptom of this type is pain which may be felt in any part of the body. It may give rise to weakness, numbness and balance difficulties with varying degrees in each case. However, it does not cause deafness.

Cause of Neurofibromatosis

Neurofibromatosis is an autosomal dominant genetic condition which could either be inherited or a result of genetic mutation. Fifty percent of NF cases are attributed to inheriting faulty genes, either NF1 or NF2, from a parent. The type of NF passed on to the child is the same type that the parent has. Each NF parent has a fifty percent chance of having a child with NF in each instance of pregnancy.

Spontaneous mutations in the NF genes are responsible for 50% of NF cases. In the case of NF1, a variation in the NF1 gene in chromosome 17 has occurred during conception. Meanwhile, a mutation in the NF2 gene in chromosome 22 must have happened to give rise to NF2. A person with NF due to spontaneous genetic mutation may pass on the defective gene to his or her offspring.

For schwannomatosis, fifteen percent of the cases are attributed to genetic inheritance while the remainder has no traces of family history.

Diagnosis and Treatment of Neurofibromatosis

Neurofibromatosis can be confirmed through physical examination and assessment of the symptoms presented. The family history will be investigated to know the chances of having NF through heredity. The following tests and procedures may also be required to arrive at a definitive diagnosis:

  • MRI scans

  • CT scans

  • X-ray imaging

  • Blood tests

  • Hearing tests

  • Audiometry

Moreover, genetic testing can be used to diagnose NF while the baby is still in the womb. This is especially helpful for those who have history of NF in the family. This, however, will not be able to predict the severity of the symptoms of neurofibromatosis.

Neurofibromatosis Treatment

The neurofibromas are generally not removed surgically because they are too many of them and do not cause any damage to health. However, CO2 lasers can be used to treat dermal neurofibromas, for cosmetic improvements. Generally, doctors recommend going for a test before the procedure because one has to be sure whether the resultant scar can be a good substitute for the disfigured skin.

Drugs can also be used to treat the condition. ACE inhibitors can work as a catalyst by controlling TGF-beta, which is known to help in the growth of the tumors.

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    • wpcooper profile image

      Finn Liam Cooper 7 months ago from Los Angeles

      hi good article on the condition.

      however i think it has been discovered that NF was not what affected merick. He had proteus syndrome.

      i wrote a couple articles on NF

    • profile image

      S.CHITRA 2 years ago

      I HAVE NEURIFIBROMATICS , MY AGE IS 39 , I INTEREST IO MARRY ,

      THRE IS AMY PROBLE.

    • Hezekiah profile image

      Hezekiah 4 years ago from Japan

      What an unfortunate condition.

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