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NEUROFIBROMATOSIS TYPE 1

Background
Medical Management Considerations
References
Resources for Families
Advisory Committee
Publication Information

Learning Points

  • Restate the occurrence of Neurofibromatosis Type 1 (1:3,000 individuals).
  • Define Neurofibromatosis Type 1 (e.g., a progressive, multi-system, autosomal dominant disorder manifested by benign and malignant tumors on nerves, and other abnormalities such as skin and bone changes and deformities).
  • List four of the seven characteristic features of Neurofibromatosis Type 1; e.g.,
    • Six or more café-au-lait spots (CLS) or macules (>5 mm diameter prepubertal and >15 mm diameter postpubertal)
    • Two or more neurofibromata or one plexiform neurofibroma
    • Freckling in axillary or inguinal region
    • Optic glioma
  • Restate three conditions commonly associated with Neurofibromatosis Type 1; e.g.,
    • Brain and nerve tumors
    • Death risk increases 3%-15% due to malignancy
    • Learning difficulties
  • Delineate four ongoing medical management considerations for individuals diagnosed with Neurofibromatosis Type 1; e.g.,
    • Evaluate for new neurofibromas and progression of lesions
    • Check blood pressure
    • Monitor for skeletal changes
    • Evaluate neurodevelopmental progress
  • Refer families to appropriate resources on Neurofibromatosis Type 1.

BACKGROUND
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Description and Cause

Neurofibromatosis 1 is a progressive, multi-system, autosomal dominant disorder manifested by benign and malignant tumors on nerves, and other abnormalities such as skin and bone changes and deformities. Neurofibromatosis 1 is transmitted by an autosomal dominant mode of inheritance, between 30% and 50% of cases are due to a mutation on chromosome 17. This mutation gives rise to diminished function of neurofibromin, normally a tumor suppressor.

Occurrence

  • 1:3,000 individuals

Characteristic Features

The National Institutes of Health lists the following seven features, of which two or more are required to make a firm diagnosis.

  • Six or more café-au-lait spots (CLS) or macules (>5 mm diameter prepubertal and >15 mm diameter postpubertal)
  • Two or more neurofibromata or one plexiform neurofibroma
  • Freckling in axillary or inguinal region
  • Optic glioma
  • Two or more iris hamartomas
  • An osseous lesion (such as sphenoid dysplasia or cortical thinning of long bones)
  • A parent, sibling or child with Neurofibromatosis 1

Common Associations

Note: These conditions vary greatly among affected individuals, even among those within one family.

  • Brain and nerve tumors
  • Death risk increases 3%-15% due to malignancy
  • Learning difficulties
  • Mental retardation (usually not severe)
  • Seizures
  • Macrocrania
  • Facial disfigurement
  • Optic gliomas
  • Gastrointestinal disorders such as pain, vomiting, chronic constipation, diarrhea and bleeding
  • Hyperactivity
  • Hypertension
  • Kyphosis and/or scoliosis
  • Pseudarthroses
  • Short stature
  • Sexual precocity

MEDICAL MANAGEMENT CONSIDERATIONS
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Note: These considerations are in addition to the normal medical care provided to an individual without Neurofibromatosis type 1. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted.

Ongoing (all ages)

  • Evaluate for new neurofibromas and progression of lesions
  • Check blood pressure
  • Monitor for skeletal changes
  • Evaluate neurodevelopmental progress
  • Reassure that CLS and freckling have only cosmetic significance
  • Refer for family/child support

Infancy (Birth to 1 year)

  • Examine for presence of CLS
  • Recommend exam for parents and siblings
  • Conduct imaging study for optic glioma when clinically indicated (CT or MRI)
  • Check for proptosis, rapidly increasing head size and focal neurologic signs
  • Examine for skeletal abnormalities
  • Monitor growth and development
  • Advise parents to report new symptoms
  • Advise to use sun protection
  • Stress need for neurologic and blood pressure evaluations
  • Provide genetic counseling
  • Discuss possibility of SSI enrollment if serious chronic illness or disability is present
  • Discuss parenting issues and skills to nurture growth and development

Early Childhood (1 to 5 years)

  • Examine for neurofibromata and new freckling
  • Refer for audiogram before entering school
  • Recommend annual ophthalmological exam
  • Assess speech and language progress
  • Obtain psychological evaluation
  • Discuss indications for surgery, as appropriate
  • Recommend and arrange for dental care
  • Refer for appropriate child education and social experiences (e.g., preschool)

Late Childhood (5 to 13 years)

  • Examine for disfiguring skin tumors
  • Check for presence of optic glioma or hypothalamic lesion if premature puberty occurs (CT or MRI)
  • Monitor effects of puberty and advise caregiver/child about sexual activities
  • Monitor school progress with attention to possible learning disabilities
  • Monitor speech and language progress
  • Assess self-care skills
  • Review social adjustment and refer for family/child support
  • Assess and refer for socialization and exercise (e.g., sports activities)

Adolescence and Adulthood (13 years and over)

  • Refer for annual ophthalmological exam
  • Examine for signs of puberty or hypogonadism
  • Perform neurological exam to check for deep plexiform neurofibromata
  • Obtain surgical consultation if signs of pressure on deep structures are present
  • Reinforce importance of self-care skills if serious chronic illness or disability is present
  • Discuss genetics and inheritance of the condition with its implications on childbearing
  • Discuss long-term financial plans if serious chronic illness or disability is present
  • Discuss alternative community living resources if serious chronic illness or disability is present
  • Monitor prevocational training and vocational activities if serious chronic illness or disability is present
  • Discuss community-supported employment opportunities if serious chronic illness or disability is present
  • Advise caregiver/child about social and sexual growth and development

REFERENCES
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Peer-reviewed Journal Articles/Academies

American Academy of Pediatrics. (1995). Health Supervision for Children with Neurofibromatosis. Pediatrics, 96(2), 368-372.

Cnossen, M.H. et al. (1997). Endocrinologic Disorders and Optic Pathway Gliomas in Children with Neurofibromatosis type 1. Pediatrics, 100(4), 667-670.

Eichenfield L.F. et al. (1997). American Academy of Dermatology Guidelines/Outcomes Committee: Guidelines for Care for Neurofibromatosis Type 1. Journal of the American Academy of Dermatology, 37(4), 625-630.

Gutmann, D.H. et al. (1997). The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2. Journal of the American Medical Association, 278(1), 51-57.

Hyman. S.L. et al. (2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Journal of the American Academy of Neurology. 65, 1037-1044.

National Institutes of Health Consensus Development Conference Statement. (1988). Neurofibromatosis. Neurofibromatosis, 1, 172-178.

Special Interest Groups/Other Publications

Capute, A.J. & Accardo, P.J,. (1996). Developmental Disabilities in Infancy and Childhood vol. II: The Spectrum of Developmental Disabilities. Baltimore: Paul H. Brookes Publishing Co.

Jones, K. L. (1997). Smith’s Recognizable Patterns of Human Malformation (5th ed.). Philadelphia: WB Saunders & Co.

National Institute of Neurological Disorders and Stroke – Neurofibromatosis Fact Sheet Retrieved from  on February 14, 2006.

Kam, J.R. & Helm, T.N. (2005). Neurofibromatosis – Retrieved from  on February 14, 2006.

RESOURCES FOR FAMILIES
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American Academy of Dermatology
888-462-DERM

California Department of Developmental Services
916-654-1690

California Regional Centers
916-654-1958

Exceptional Parent Magazine
800-247-8080

March of Dimes Birth Defects Foundation
914-428-7100

The Children’s Tumor Foundation
800-323-7938

The Neurofibromatosis Clinic (Massachusetts General Hospital)
617-942-6825

Neurofibromatosis, Inc.
800-942-6825

Neurofibromatosis Resources

ADVISORY COMMITTEE
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Theodore A. Kastner, M.D., M.S.
Richard J. Brouette, M.D., F.A.A.F.P., D.A.B.F.P.
Mary Anne Lewis, Dr. P.H., R.N., F.A.A.N.
Felice Weber Parisi, M.D., M.P.H.
Jaime Mejlszenkier, M.D., F.A.A.N

PUBLICATION INFORMATION
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This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services.

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