Diagnostic criteria:
  • The diagnosis of NF-1 is established when an individual meets 2 or more of the following:
    • 6 or more cafĂ©-au-lait spots >5 mm in greatest diameter in prepubertal individuals, >15 mm in greatest diameter in postpubertal individuals.
    • Freckling in the axillary or inguinal regions.
    • 2 or more neurofibromas of any type, or 1 plexiform neurofibroma.
    • Optic pathway glioma.
    • 2 or more Lisch nodules identified by slit-lamp examination, or 2 or more choroidal abnormalities (patchy bright nodules identified by OCT or near-infrared imaging techniques).
    • A distinctive bone lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
    • A parent who meets the diagnostic criteria for NF-1.
    • A pathogenic germline mutation in the NF1 gene.
Differential diagnosis.
  • Other forms of neurofibromatosis:
    • Segmental neurofibromatosis.
    • Legius syndrome.
    • Neurofibromatosis type 2.
    • Schwannomatosis.
    • NF1-Noonan syndrome (Watson syndrome).
  • Overgrowth syndromes:
    • Klippel-Trenaunay-Weber syndrome.
    • Proteus syndrome.
  • Other diseases with the same pigmentary changes:
    • McCune-Albright syndrome.
    • LEOPARD syndrome.
    • Piebaldism.
    • Peutz-Jeghers syndrome.
  • Other diseases with tumors that can be confused with neurofibromas.
    • MEN 2B.
    • Fibromatosis.
    • Lipomatosis.
    • Bannayan-Riley-Ruvalcaba syndrome.
Chronology of onset of symptoms:
19955111 {19955111:JKL2X4VK} 1 vancouver 50 default 2051 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
statussuccessupdateneededfalseinstancefalsemeta%3 Arequest_last0request_next0used_cachetruedata% 7BkeyJKL2X4VKlibraryid19955111metacreato rSummaryFriedmanparsedDate2022-04-21numChildren2bi bltdivclassquotcsl-bib-bodyquotstylequotline-height% 201.35quotgtnltdivclassquotcsl-entryquotstyle% 3Dquotclearleftquotgtnltdivclassquotc sl-left-marginquotstylequotfloatleftpadding-right0.5emtext- alignrightwidth1emquotgt1.ltdivgtltdivcl assquotcsl-right-inlinequotstylequotmargin0.4em01.5em%2 6quotgtFriedmanJM.Neurofibromatosis1Internet.UniversityofWashing tonSeattle2022cited2022Sept12.Availablefromltaclas s039zp-ItemURL039href039httpswww.ncbi.nlm.nih.gov booksNBK1109039gthttpswww.ncbi.nlm.nih.govbooks NBK1109ltagtltdivgtnltdivgt% 3BnltdivgtdataitemTypebooktitleN eurofibromatosis1creatorscreatorTypeauthorfirstName% 3AJanM.lastNameFriedmanabstractNoteNeurofibromatosis 1NF1isamultisystemdisordercharacterizedbymultiplecafu00e9a ulaitmaculesintertriginousfrecklingmultiplecutaneousneurofibromasand learningdisabilityorbehaviorproblems.AbouthalfofpeoplewithNF1haveplexiformneurofibromasbutmostareinternalandnotsuspectedclinically. Plexiformneurofibromascancausepainneurologicdeficitsandabnormalitiesofinvolvedoradjacentstructures.Lesscommonbutpotentiallymoreserious% 20manifestationsincludeopticnerveandothercentralnervoussystemgliomasmalignantperipheralnervesheathtumorsscoliosistibialdysplasiavascul opathyandgastrointestinalendocrineorpulmonarydisease.date% 2220220421originalDateoriginalPublisherorigi nalPlaceformatISBNDOI10.1007spr ingerreference_39243citationKeyurlhttpswww.ncbi.nl m.nih.govbooksNBK1109ISSNlanguageenco collectionsLVMVLRNBdateModified2026-05-05T192840Z
1.
Friedman JM. Neurofibromatosis 1 [Internet]. University of Washington, Seattle; 2022 [cited 2022 Sept 12]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109/

Association of Patients affected by Neurofibromatosis.