Critères diagnostiques :
- Le diagnostic de NF-1 est établi lorsqu'une personne répond à 2 ou plusieurs des critères suivants :
- 6 taches café au lait ou plus > 5 mm de plus grand diamètre chez les prépubères, > 15 mm de plus grand diamètre chez les postpubères.
- Taches de rousseur dans les régions axillaires ou inguinales (taches de rousseur).
- 2 neurofibromes ou plus de tout type, ou 1 neurofibrome plexiforme.
- Gliome du nerf optique.
- 2 nodules de Lisch ou plus identifiés par évaluation à la lampe à fente, ou 2 anomalies choroïdiennes ou plus (nodules inégaux brillants identifiés par OCT ou techniques d'imagerie proche infrarouge).
- Lésion osseuse distinctive telle qu'une dysplasie sphénoïde, une courbure antérolatérale du tibia ou une pseudarthrose d'un os long.
- Père ou mère qui répond aux critères diagnostiques de NF-1.
- Une mutation germinale pathogène dans le gène NF1.
Diagnostic différentiel.
- Autres formes de neurofibromatose :
- Neurofibromatose segmentaire.
- Syndrome de Legius.
- Neurofibromatose type 2.
- Schwannomatose.
- Syndrome NF1-Noonan (syndrome de Watson).
- Syndromes de prolifération :
- Syndrome de Klippel-Trenaunay-Weber.
- Syndrome de Protée.
- Autres maladies avec les mêmes changements pigmentaires :
- Syndrome de McCune-Albright.
- Syndrome du LÉOPARD.
- Le piebaldisme.
- Syndrome de Peutz-Jeghers.
- Autres maladies avec tumeurs confondues avec les neurofibromes.
- MENU 2B.
- Fibromatose.
- Lipomatose.
- Syndrome de Bannayan-Riley-Ruvalcava.
Chronologie d'apparition des symptômes :
19955111
{19955111:JKL2X4VK}
1
Vancouver
50
défaut
2051
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22JKL2X4VK%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Friedman%22%2C%22parsedDate%22%3A%222022-04-21%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BFriedman%20JM.%20Neurofibromatosis%201%20%5BInternet%5D.%20University%20of%20Washington%2C%20Seattle%3B%202022%20%5Bcited%202022%20Sept%2012%5D.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fbooks%5C%2FNBK1109%5C%2F%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fbooks%5C%2FNBK1109%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22book%22%2C%22title%22%3A%22Neurofibromatosis%201%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jan%20M.%22%2C%22lastName%22%3A%22Friedman%22%7D%5D%2C%22abstractNote%22%3A%22Neurofibromatosis%201%20%28NF1%29%20is%20a%20multisystem%20disorder%20characterized%20by%20multiple%20caf%5Cu00e9%20au%20lait%20macules%2C%20intertriginous%20freckling%2C%20multiple%20cutaneous%20neurofibromas%2C%20and%20learning%20disability%20or%20behavior%20problems.%20About%20half%20of%20people%20with%20NF1%20have%20plexiform%20neurofibromas%2C%20but%20most%20are%20internal%20and%20not%20suspected%20clinically.%20Plexiform%20neurofibromas%20can%20cause%20pain%2C%20neurologic%20deficits%2C%20and%20abnormalities%20of%20involved%20or%20adjacent%20structures.%20Less%20common%20but%20potentially%20more%20serious%20manifestations%20include%20optic%20nerve%20and%20other%20central%20nervous%20system%20gliomas%2C%20malignant%20peripheral%20nerve%20sheath%20tumors%2C%20scoliosis%2C%20tibial%20dysplasia%2C%20vasculopathy%2C%20and%20gastrointestinal%2C%20endocrine%2C%20or%20pulmonary%20disease.%22%2C%22date%22%3A%222022%5C%2F04%5C%2F21%22%2C%22originalDate%22%3A%22%22%2C%22originalPublisher%22%3A%22%22%2C%22originalPlace%22%3A%22%22%2C%22format%22%3A%22%22%2C%22ISBN%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fspringerreference_39243%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fbooks%5C%2FNBK1109%5C%2F%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22LVMVLRNB%22%5D%2C%22dateModified%22%3A%222026-05-05T19%3A28%3A40Z%22%7D%7D%5D%7D
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/