Skip to main content

Advertising Disclaimer »

Main menu

  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors/Reviewers
    • Submit Manuscript
    • Author Guidelines
    • Reviewer Guidelines
    • Open Access
    • Editorial Policies
  • Content
    • Current Issue
    • Online First
    • Archive
    • Blogs
    • Topic/Program Collections
    • AAP Meeting Abstracts
  • Pediatric Collections
    • COVID-19
    • Racism and Its Effects on Pediatric Health
    • More Collections...
  • AAP Policy
  • Supplements
  • Multimedia
    • Video Abstracts
    • Pediatrics On Call Podcast
  • Subscribe
  • Alerts
  • Careers
  • Other Publications
    • American Academy of Pediatrics

User menu

  • Log in
  • My Cart

Search

  • Advanced search
American Academy of Pediatrics

AAP Gateway

Advanced Search

AAP Logo

  • Log in
  • My Cart
  • Journals
    • Pediatrics
    • Hospital Pediatrics
    • Pediatrics in Review
    • NeoReviews
    • AAP Grand Rounds
    • AAP News
  • Authors/Reviewers
    • Submit Manuscript
    • Author Guidelines
    • Reviewer Guidelines
    • Open Access
    • Editorial Policies
  • Content
    • Current Issue
    • Online First
    • Archive
    • Blogs
    • Topic/Program Collections
    • AAP Meeting Abstracts
  • Pediatric Collections
    • COVID-19
    • Racism and Its Effects on Pediatric Health
    • More Collections...
  • AAP Policy
  • Supplements
  • Multimedia
    • Video Abstracts
    • Pediatrics On Call Podcast
  • Subscribe
  • Alerts
  • Careers

Discover Pediatric Collections on COVID-19 and Racism and Its Effects on Pediatric Health

American Academy of Pediatrics

revised

  • e20190660
American Academy of Pediatrics

Health Supervision for Children With Neurofibromatosis

Committee on Genetics, 1994 to 1995
Pediatrics August 1995, 96 (2) 368-372;
  • Article
  • Info & Metrics
  • Comments
Loading
Download PDF

Abstract

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of neurofibromatosis has been made. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of neurofibromatosis will be referred for advice. Therefore, these guidelines offer advice for this situation as well.

At least two distinct types are recognized—neurofibromatosis 1, or NF-1 (previously known as von Recklinghausen disease or generalized neurofibromatosis), and neurofibromatosis 2, or NF-2 (previously known as bilateral acoustic neurofibromatosis). This discussion addresses only issues concerning the diagnosis and management of NF-1.1-8

Neurofibromatosis 1 is a progressive, multisystem disorder affecting about 1 in 3,000 individuals.9 A National Institutes of Health (NIH) Consensus Development Conference10 regarding NF-1 demarcated seven features, of which two or more are required to establish firmly the diagnosis of NF-1:

1. Six or more cafe-au-lait spots (CLS) or macules, greater than or equal to 5 mm in diameter in prepubertal patients and 15 mm in diameter in postpubertal patients;

2. Two or more neurofibromata of any type, or one plexiform neurofibroma;

3. Freckling in the axillary or inguinal region;

4. Optic glioma;

5. Two or more Lisch nodules (iris hamartomas);

6. A distinctive osseous lesion such as sphenoid dysplasia or cortical thinning of long bones, with or without pseudarthrosis; or

7. A first-degree relative (parent, sibling, or child) with NF-1 according to the preceding criteria.

Diagnosis in nonfamilial pediatric cases may be difficult because certain clinical features are age-pendent.

  • Copyright © 1995 by the American Academy of Pediatrics
PreviousNext
Back to top

Advertising Disclaimer »

In this issue

Pediatrics
Vol. 96, Issue 2
1 Aug 1995
  • Table of Contents
  • Index by author
PreviousNext
Email Article

Thank you for your interest in spreading the word on American Academy of Pediatrics.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Health Supervision for Children With Neurofibromatosis
(Your Name) has sent you a message from American Academy of Pediatrics
(Your Name) thought you would like to see the American Academy of Pediatrics web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Request Permissions
Article Alerts
Log in
You will be redirected to aap.org to login or to create your account.
Or Sign In to Email Alerts with your Email Address
Citation Tools
Health Supervision for Children With Neurofibromatosis
Committee on Genetics, 1994 to 1995
Pediatrics Aug 1995, 96 (2) 368-372;

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
Health Supervision for Children With Neurofibromatosis
Committee on Genetics, 1994 to 1995
Pediatrics Aug 1995, 96 (2) 368-372;
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Download PDF
Insight Alerts
  • Table of Contents

Jump to section

  • Article
  • Info & Metrics
  • Comments

Related Articles

  • Health Supervision for Children With Neurofibromatosis Type 1
  • PubMed
  • Google Scholar

Cited By...

  • A child with axillary freckling and cafe au lait spots
  • Neurofibromatosis Bright Objects in Children With Neurofibromatosis Type 1: A Proliferative Potential?
  • Google Scholar

More in this TOC Section

  • Disaster Planning for Schools
  • Exposure to Nontraditional Pets at Home and to Animals in Public Settings: Risks to Children
  • Medical Emergencies Occurring at School
Show more AMERICAN ACADEMY OF PEDIATRICS

Similar Articles

  • Journal Info
  • Editorial Board
  • Editorial Policies
  • Overview
  • Licensing Information
  • Authors/Reviewers
  • Author Guidelines
  • Submit My Manuscript
  • Open Access
  • Reviewer Guidelines
  • Librarians
  • Institutional Subscriptions
  • Usage Stats
  • Support
  • Contact Us
  • Subscribe
  • Resources
  • Media Kit
  • About
  • International Access
  • Terms of Use
  • Privacy Statement
  • FAQ
  • AAP.org
  • shopAAP
  • Follow American Academy of Pediatrics on Instagram
  • Visit American Academy of Pediatrics on Facebook
  • Follow American Academy of Pediatrics on Twitter
  • Follow American Academy of Pediatrics on Youtube
  • RSS
American Academy of Pediatrics

© 2021 American Academy of Pediatrics