What is Neurofibromatosis?

Neurofibromatosis (NF), also known as von Recklinghausen disease, is a common autosomal dominant disorder that can affect many organs in the body, especially the skin and the nervous system.  Some of the features may be present at birth, but others do not appear for many years.  There are two distinct forms of Neurofibromatosis:  NF1 and NF2.

What is Neurofibromatosis-1?

Neurofibromatosis 1 (NF1) is the most common type of Neurofibromatosis, and it is seen in 1/4000 people.  It is characterized by multiple birthmarks as well as tumors in the nervous system and brain.  It is often inherited in an autosomal dominant fashion, however, in 50% of cases there is no family history and it is a result of a gene mutation, a new change not seen in other family members.

What is Neurofibromatosis-2?

Neurofibromatosis 2 (NF2) also called Bilateral Acoustic Neurofibromatosis makes up 10% of all cases of NF with an incidence of 1/50,000.  It is characterized by tumors on the nerves going to the ears, usually on both sides.  People may also have other lesions and tumors in the brain and spinal cord.  The majority of cases of NF2 are caused by a gene mutation, a new change not seen in other family members.

What are the features of Neurofibromatosis-1?

Most people with NF1 will have some but not all of the following signs:

• Multiple large light colored birthmarks called café-au-lait spots, which are the hallmark of NF1 and are seen almost 100% of the time
• Many freckles in the armpits and the groin
• Dark growths on the colored portion of the eyes called iris Lisch nodules
• Multiple small, rubbery lesions on the skin with a purplish discoloration called neurofibromas, which usually appear during adolescence or pregnancy
• Areas of diffuse thickening of the nerve trunks that are frequently near the eyes or in front of the ears called plexiform neurofibromas, which are usually present from birth
• Scoliosis or other bony abnormalities
• Growths within the eye affect 15% of people with NF1, and some people with NF1 will have visual difficulties
• A parent, brother, sister, or child with NF1

What are some of the possible complications of NF1?

• Pain
• Neurological complications leading to learning disabilities, attention deficit disorder, and speech problems
• Seizures
• Hydrocephalus (rare)
• Large head size, called macrocephaly
• Stroke
• Early onset of puberty
• High blood pressure
• Malignant tumors of the nerves, spinal cord, brain, and other organs

What are the features of Neurofibromatosis-2?

• Tumors, called acoustic neuromas, on one or both nerves to the ears (auditory nerves).  For more about acoustic neuromas, see the website of the Acoustic Neuroma Association.
• A parent, brother, sister, or child with NF2

What are some of the possible complications of NF2?

• Hearing loss
• Facial weakness
• Headaches
• Unsteadiness
• Cloudiness of the lens in the eye called posterior subcapsular lens opacities are seen in 50% of people with NF2
• Tumors on the nerves or in the brain

What is the management for Neurofibromatosis-1?

There is no cure for NF1, but there are many things your family can do to decrease complications:

• Have a pediatrician take a detailed history and get regular physical exams.  Share these AAP guidelines with your child’s doctor.
• Get yearly eye exams by a children’s eye doctor (a pediatric ophthalmologist).
• Have brain imaging done if there are symptoms like vision loss, difficulty opening an eye, persistent headaches, seizures, or early puberty
• Evaluate for any learning difficulties, speech problems or attention deficit.  This could be done through your local early intervention program or the public school system. Call your local school system for information.  Here is information aboutfinding help for young children, birth to age five.  Call NICHCY for assistance in getting help for your child at 1-800-695-0285.
• Get genetic counseling.  About half of all cases of NF1 are inherited, so parents should be thoroughly examined to determine the risk in future pregnancies.  The other half of the cases are from a mutation—a new change in the genes.

What is the management for Neurofibromatosis-2?

There is no cure for NF2, but there are many things your family can do to decrease complications:

• Have a pediatrician take a detailed history and get regular physical exams.  Share these AAP guidelines with your child’s doctor.
• Get yearly eye exams by a pediatric eye doctor (ophthalmologist)
• Have brain imaging done if there are symptoms such as visual loss, difficulty opening an eye, persistent headaches, or unsteadiness
• Get regular hearing evaluations
• Evaluate for any speech difficulties.   This could be done through your local early intervention program or the public school system. Call your local school system for information.  Here is information about finding help for young children, birth to age five.
• Get genetic counseling.  The majority of cases are the result of a mutation (a new change that is not seen in other family members).  Prenatal testing may be possible for some families.

Where can I find more information on NF?

• National Institute of Neurological Disorders and Stroke—Information page on NF1 and NF2.  Description of NF, treatment options and prognosis, and links to studies seeking patients.
• Your genes, your health—Information on signs, symptoms, and treatment options for NF1 and NF2 with video clips from a mother regarding her child (video clips require QuickTime 5.0 or greater)
• Neurofibromatosis—from Kidshealth.org has information for parents and children.
• U.S. National Library of Medicine—A comprehensive website with definitions of commonly used terms and answers to many questions.
• Developmental information from the University of Chicago.  Includes cause, signs and symptoms, and information helpful for children and adults throughout development.  Check out their helpful page on what to do after a new neurofibromatosis diagnosis.
• University of Michigan Pediatric Advisor on NF has a brief overview of the problems to look for at different ages. 
• Online Mendelian Inheritance in Man, NF1—Scientific website with information on clinical features, genetics, diagnosis, references, and links to research articles on NF1.
• Online Mendelian Inheritance in Man, NF2—Scientific website with information on clinical features, genetics, diagnosis, references, and links to research articles on NF2.
• Information about all the neurocutaneous syndromes.
• Glossary of genetic terms
• NF links from the University of Kansas Medical Center Genetics Education Center 

Where can I find organizations, support and other resources relating to NF?

• The National Neurofibromatosis Foundation.  A comprehensive website with general and scientific information about Neurofibromatosis, pictures, links to local resources and physicians, links for children, NF camp information, chat room, research studies, and information in Danish, Finnish, Flemish, French, German, Italian, Japanese, Norwegian, Spanish, and Swedish.
• Neurofibromatosis, Inc.- Includes general information, resources, helpful books, support group information, and links to other NF websites.
• National Institute on Deafness and other Communication Disorders - Concentrates on vestibular schwannomas (acoustic neuromas) seen in NF2.
• NF2 Support Group- Support group for people with NF2
• AboutFace USA is a non-profit organization dedicated to providing information, emotional support, and educational programs to individuals who have a facial disfigurement, and to their families. 
• Scoliosis resource listing
• Hearing impairment resource listing
• Clinical trials open through the National Institutes of Health for NF1 and NF2
• NF Network is an international website with links to information in various countries and languages.

Información en Español

• Las Neurofirbromatoisis—National Institute of Neurological Disorders and Stroke information in Spanish on NF1 and NF2.  Description of NF, treatment options and prognosis, and links to studies seeking patients.
• Neurofibromatosis—March of Dimes website in Spanish, with general information about NF1 and NF2.  Similar to the website below.
• la Fundación Nacional para la Neurofibromatosis, NNFF - Comprehensive website in Spanish with general and scientific information about Neurofibromatosis, pictures, links to local resources and physicians, links for children, NF camp information, chat room, research studies, and information.
• Asociación Argentina de Neurofibromatosis
• Asociación Española de Neurofibromatosis.  Information in Spanish with links to other websites and bulletin boards.  Local resources are in Spain.
• Glosario de Términos Genéticos

Related Topics on YourChild

• Genetic Syndromes
• Chronic Conditions
• Siblings of Children with Special Needs
• Pain
• Learning Disabilities
• Speech and Language Delays and Disorders
• ADHD
• Precocious Puberty

Reference:

Haslam RH: Neurocutaneous Syndromes. In Berman RE, Kliegman RM, Jenson HB (editors): Nelson Textbook of Pediatrics, 17th Edition. Philadelphia, Elsevier, 2004, p. 2015-2017.

Written and compiled by Kyla Boyse, R. N. Reviewed by faculty and staff at the University of Michigan

Updated October 2006

U-M Health System Related Sites:
U-M Pediatrics

Our editorial policy
The information and links we provide are reviewed by University of Michigan developmental and behavioral pediatricians and child psychologists who are experts in child behavioral health. In choosing the links we provide, we use strict criteria to ensure that the information is accurate, and the source is reputable. As much as possible, we focus on information that is based on research. In areas where there is inadequate research, we include information compatible with prevailing expert opinion.

This website is updated regularly, but because of the dynamic nature of the Internet, we cannot be responsible for misinformation that may be accessed through the links provided. As always, this website is not a tool for self-diagnosis, and is not a substitute for professional care.

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