1. Health
You can opt-out at any time. Please refer to our privacy policy for contact information.


Pediatric Basics


Updated June 12, 2006

Neurofibromatosis is a type of neurocutaneous syndrome that affects about 100,000 people in the United States.

Neurofibromatosis Symptoms

Children with neurofibromatosis Type I, the most common type, typically have at least two of the following:
  • Six or more cafe-au-lait spots, flat, brown, irregularly shaped skin lesions, over 5mm in diameter before puberty and over 15mm in diameter after puberty has begun.
  • Axillary or inguinal freckling, which are freckles under a child's arms or in the groin area.
  • Two or more iris Lisch nodules, which are small hamartomas that a doctor (typically a Pediatric Ophthalmologist) can see with a slit-lamp examination.
  • Two or more neurofibromas or one plexiform neurofibroma, which are small, rubbery tumors.
  • Distinctive bone lesions, such as scoliosis, sphenoid dysplasia, or cortical thinning of long bones.
  • Optic gliomas, which are benign tumors of the optic nerve.
  • A first-degree relative with neurofibromatosis Type I, since it is often inherited as an autosomal dominant disorder, although 30-50% of cases are the result of new mutations and aren't inherited.
Other symptoms of neurofibromatosis Type I can include macrocephaly (large head circumferences), short stature, hydrocephalus, headaches, epilepsy, congenital heart defects, high blood pressure, learning disabilities and ADHD.

Neurofibromatosis Type I occurs in both males and females. Since it inherited as an autosomal dominant disorder, children of people with neurofibromatosis Type I have a 50% chance of inheriting the disorder.

Children with neurofibromatosis Type II, a less common type, have at least one of the following:

  • Bilateral eighth nerve acoustic neuromas (typically found by CT scanning or an MRI) which can cause hearing loss, headaches, facial weakness, and an unsteady gait.
  • A first-degree relative with Neurofibromatosis Type II.
Schwannomatosis is another rare form of neurofibromatosis in which people develop multiple Schwannomas and chronic pain.

Diagnosis of Neurofibromatosis

The diagnosis of neurofibromatosis Type I is often made based on the clinical findings of the cafe-au-lait spots and axillary or inguinal freckling. A CT or MRI will likely also be done to look for neurofibromas and you may need to see a Pediatric Ophthalmologist to look for Lisch nodules and make sure your child doesn't have an optic glioma.

Since symptoms don't always appear all at once, some children are simply observed to see if more symptoms will develop over time when they are thought to have neurofibromatosis.

Children with neurofibromatosis Type II are often diagnosed when they are young adults, when they might complain of hearing loss or ringing in their ears.

Testing is sometimes possible in specialized labs, but has a high false negative rate, meaning that it is often negative, even when a child has neurofibromatosis.

Treatments for Neurofibromatosis

Although there is no cure for neurofibromatosis, it is important to keep in mind that according to The Children's Tumor Foundation, 'the majority of people with NF (probably 60%) have mild forms of the disorder.' Treatments are usually targeted at specific complications, such as removing tumors or treating high blood pressure.

What You Need To Know

  • Neurofibromatosis or NF is also called von Recklinghausen disease.
  • Cafe-au-lait spots are flat, light tan spots, that many children normally have on their skin. They are usually only a concern if you have six or more large cafe-au-lait spots.
  • A Pediatric Neurologist can be helpful in evaluating and treating your child who has or who is suspected of having neurofibromatosis.
  • The gene for NF1 is on chromosome 17 and the gene for NF2 is on chromosome 22.
  • Joseph Merrick, The Elephant Man, did not have neurofibromatosis.


Neurofibromatosis Fact Sheet. NIH Publication No. 06-2126.
Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Kandt RS - Neurol Clin - 01-NOV-2003; 21(4): 983-1004
Neurofibromatosis 1: from lab bench to clinic. Ward BA - Pediatr Neurol - 01-APR-2005; 32(4): 221-8

©2014 About.com. All rights reserved.

We comply with the HONcode standard
for trustworthy health
information: verify here.