Symptoms of neurofibromatosis

Neurofibromatosis Symptoms

Symptoms present at birth or symptoms that develop later in life can help doctors determine which of the three main types of neurofibromatosis or NF a patient has. This knowledge helps medical providers look for and treat other symptoms of the disease.

Neurofibromatosis symptoms vary in appearance and severity, even between family members with the same neurofibromatosis type. Some patients only have mild symptoms. In addition to observing the NF symptoms noted here, your doctor may send you for genetic testing to confirm a diagnosis or rule out other disorders.

Neurofibromatosis Type 1 Symptoms (NF 1 Symptoms)

NF 1 symptoms have distinct characteristics that help doctors diagnose and then treat the disease. Skin-related symptoms of NF 1 are usually present at birth, during infancy or by age 10. From ages 10 to 15, neurofibromas may develop or enlarge. Also, normal changes in hormones during puberty or pregnancy can cause neurofibromas to get larger.

Many of these symptoms pose little or no health complications and may be considered cosmetic. However, symptoms can be psychologically distressing or, in some cases, physically painful. In addition, neurofibromas that grow in the body have the potential to negatively affect internal organs or bones. Some tumors may grow over the eye and affect vision. Here are some common symptoms of NF 1:

  • Light brown spots (café au lait spots due to neurofibromatosis), typically located under the arms, inside the bend of the knee or elbow and in the groin area
  • Freckles under the arm or in the groin area
  • Skin nodules (neurofibromas) that include at least two or more pea-sized lumps on or under the skin
  • Thick or irregularly shaped eyelids
  • Pigmented eye spots in the iris called Lisch nodules
  • Benign tumors on the optic nerve (glioma)
  • Poor development, malformation or enlargement of arm and leg bones and the eye socket (sphenoid) in children
  • Curvature of the spine (scoliosis)
  • Seizures
  • Other less typical symptoms such as intellectual disabilities, large head or various other malignancies

Approximately 50% of children with symptoms of neurofibromatosis type 1 have speech and learning problems, seizures and hyperactivity. Less than 1% of those with NF 1 symptoms have malignant (cancerous) tumors requiring treatment.

Neurofibromatosis Type 2 Symptoms (NF 2 Symptoms)

NF type 2 symptoms may appear in adolescence or early adulthood. The first indication of NF type 2 may be hearing issues. Other symptoms of the disease may include the following:

  • Hearing problems due to tumors growing on the nerves in the ears (acoustic neuroma)
  • Balance problems
  • Ringing in the ears (tinnitus)
  • Dizziness
  • Facial numbness or numbness in other body parts
  • Chronic headaches
  • Early cataracts
  • Spots on the iris (Lisch nodules)
  • Benign tumors on the retina
  • Tumors on the eighth cranial nerve (schwannomas)
  • Spinal tumors
  • Wasting of muscles (muscle atrophy)
  • Other tumors in the nervous system (such as meningiomas)

Schwannomatosis Symptoms

Schwannomatosis is a recently identified and rare form of neurofibromatosis. Unlike the other two types of NF, it does not develop along the eighth cranial nerve or cause hearing loss. Instead, it causes pain in any part of the body. Any weakness or numbness symptoms are also less severe than those associated with the other types of NF.

  • Causes pain in any part of the body
  • Mild numbness, weakness or balance problems

Searching on the internet and viewing images of neurofibromatosis can be frightening. It is important to know that pictures of mild cases do not always show up on image searches. Many patients have mild symptoms. It is essential to have a neurofibromatosis expert evaluate your symptoms. A neurofibromatosis specialist will be aware of the newest research and treatments to help manage the symptoms of the disease. Schedule an appointment with Dr. Weinberg to be evaluated and to discuss neurofibromatosis skin treatments.

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