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1. NF1 more common – 1:3000
2. both AD
   1. NF1: 17q11.2 ~ 50% de novo, neurofibromin
3. NF1
   1. loss of function in NF1 genetics
   2. 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
4. NF2
   1. much rarer 1:25,000
   2. diagnostic criteria: bilateral vestibular schwanomma, FH of NF-2,

1. skin changes - including eye
2. bone changes, scoliosis
3. neurological complications - learning disabilities (30%), seizures (8%) ADHD, behavioral and psychosocial problems, abnormalities of speech
4. tumor risk - pheochromocytoma, rhabdomyosarcoma, leukemia, Wilms tumor

Legius - milder NF1 type presentation

1. natural history

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

• 2020-09-26 Created