=====Neurofibromatosis NF 1=====

==== NF1 vs NF2 genetics ====
  - NF1 more common -- 1:3000
  - both AD
    - NF1: 17q11.2 ~ 50%  de novo, neurofibromin
  - NF1
    - loss of function in NF1 genetics
    - diagnostic criteria: cafe au-lait spots, axillary/inguinal freckling, Lishch nodules, NF, osseous lesion (sphenoid dysplasia, cortical thining of long bones), astrocytomas, 1st deg relative with NF1
  - NF2  
    - much rarer 1:25,000
    - diagnostic criteria: bilateral vestibular schwanomma, FH of NF-2, 
  
==== Other features ====
  - skin changes - including eye
  - bone changes, scoliosis
  - neurological complications - learning disabilities (30%), seizures (8%) ADHD, behavioral and psychosocial problems, abnormalities of speech
  - tumor risk - pheochromocytoma, rhabdomyosarcoma, leukemia, Wilms tumor

Legius - milder NF1 type presentation

=== Plexiform neurofibromas === 

  - natural history



====Source====
Kliegman, R., Behrman, R. E., & Nelson, W. E. (Eds.). (2016). Nelson textbook of pediatrics (Edition 20). Elsevier.

====History=====

  * 2020-09-26 Created