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neurofibromatosis [2016/11/07 11:36] – created Scott Larsonneurofibromatosis [2025/04/18 20:40] (current) – external edit 127.0.0.1
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 +====== Neurofibromatosis type I ====== 
 +===== Diagnostic Criteria ===== 
 +**Two or More of the following** 
 +  * 6 or more **café-au-lait spots** 
 +    * >5 mm in greatest diameter prepubertal children  
 +    * >15 mm in greatest diameter in postpubertal individuals 
 +  * Axillary or inguinal **freckling** 
 +  * 2 or more cutaneous **neurofibromas** 
 +  * 1 plexiform neurofibroma 
 +  * 2 or more **Lisch nodules** 
 +    * [[https://www.nejm.org/doi/full/10.1056/NEJM199105023241807|Lisch nodules in NF-1. Lubs et al. NEJM 1991]] 
 +  * **Optic nerve glioma** 
 +  * A characteristic **bony lesion** 
 +    * sphenoid wing hypoplasia/dysplasia 
 +    * thinning of long bone cortex with or without pseudarthrosis (poor ossification or non-union of bone creating a "false joint"
 +  * First-degree relative with NF1