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What Are The First Symptoms Of Neurofibromas & How Do You Test For It?

The neurofibroma is a tumor located in the peripheral nerves. It results from the anarchic multiplication of different cells forming the perineurium, supporting connective tissue surrounding these peripheral nerves. It is to be differentiated from the neuroma that develops from Schwann cells. The appearance of neurofibromas is mainly due to hereditary genetic diseases, called neurofibromatosis.

The most typical example is neurofibromatosis or Von Recklinghausen’s disease marked by the development of small tumors at different sites. The consequences of the presence of neurofibromas can be more or less serious depending on their size and their position in the body.1

What Are The First Symptoms Of Neurofibromas?

Neurofibroma 1 usually has no symptoms, except for characteristic coffee-milk-colored spots or nodules (neurofibromas) under the skin. Affected people may not notice spots or nodules. However, when neurofibromas compress nearby nerves, people may have tingling or weakness in areas near the nodules.

Coffee-milk-colored spots develop in about 90% of affected children. They develop on the skin of the chest, back, pelvis and in the hollow of the elbows and knees. These spots may be present at birth or appear during infancy. Children without neurofibromatosis may have two or three coffee-latte spots, but children with type 1 neurofibromas have at least six such spots.

Other symptoms of neurofibromas1 include:

  • Tumors of the nerves, visible in particular on the skin in the form of small nodules under the skin of the same color of the skin
  • Some neurofibromas are not visible and appear at the level of a nerve, responsible for producing a small tumor
  • Small tumors may form on the iris, often not visible
  • Development of a tumor on the path of the optic nerve
  • Characteristic freckles at the folds, mainly groin, and armpits, called lentigines
  • Possibility of bone deformities

In neurofibromas2, acoustic neuromas develop on one or both auditory nerves. Tumors can cause hearing loss, ringing wheezing (tinnitus), instability, dizziness, and sometimes headache or weakness of certain parts of the face. Symptoms can appear in childhood or early adulthood.

People may also have other types of tumors, including gliomas and meningiomas (tumors that appear in the brain or near the brain), and some develop early cataracts2, 3.


In schwannomatosis, benign tumors (schwannomas) can appear on almost all the nerves in the body, with the exception of the auditory nerve. Some people have many schwannomas, but others have only a few.

The first symptom of schwannomatosis is usually a pain that can become chronic and severe. Some people experience numbness, tingling, or weakness of the fingers and toes. Other symptoms may occur, depending on the location of the schwannoma(s)4.

How Do You Test For Neurofibromas?

Medical history of the patient and physical examination are usually enough to diagnose neurofibromas. If further analysis is required, your doctor may opt for imaging scans such as CT, MRI, and PET.

Types Of Neurofibromatosis

There are three types of neurofibromatosis (Type 1, Type 2, and Schwannomatosis):

Type 1 (NF1) affects about 1 individual from 2500 to 3000. The neurofibromas develop along peripheral nerves, for example on or in the skin and just outside the spinal cord. Sometimes tumors develop in the nerves that connect the brain to the eyes (optic nerves). Bones and soft tissues (such as muscles) can also be affected.

Type 2 (NF2) is less common and affects about 1 individual in 35000. It causes tumors of the auditory nerves (which connect the inner ear and the brain), called acoustic neuromas, and sometimes tumors may develop in the brain or the tissues surrounding the brain or spinal cord (meninges). Tumors located in the meninges are called meningiomas. These tumors are benign in nature (not cancerous)2, 3.

The Schwannomatosis4 is very rare compared to the other two types. In this case, neurofibromas develop around peripheral nerves but do not affect the auditory nerve.


Neurofibromas are a small benign tumor that affects the nervous system. It occurs due to a genetic disorder. People with this disease have non-cancerous tumors along the nerve pathways. Symptoms of the disease vary from discoloration of the skin (coffee-milk-colored spots), hearing difficulty or bone deformities. They mostly appear at the time of birth or during infancy. This condition can affect men as well as women of all ethnic groups.


  1. Ferner RE, O’Doherty MJ. Neurofibroma and schwannoma. Current opinion in neurology. 2002;15(6):679-684.
  2. Sabatini C, Milani D, Menni F, Tadini G, Esposito S. Treatment of neurofibromatosis type 1. Current treatment options in neurology. 2015;17(6):26.
  3. Blakeley JO, Evans DG, Adler J, et al. Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. American journal of medical genetics Part A. 2012;158(1):24-41.
  4. MacCollin M, Chiocca E, Evans D, et al. Diagnostic criteria for schwannomatosis. Neurology. 2005;64(11):1838-1845.

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 26, 2019

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