NF Flashcards
The condition, neurofibromatosis, encompasses 3 distinct disorders. What are they?
NF1, NF2, and schwannomatosis
NF1: defect and mode of inheritance?
AD, neurofibromin (NF1) works by negatively regulating Ras activation
Diagnostic criteria for NF1?
6 cafe au last spots, intertriginous freckling, plexiform or dermal neurofibromas, > 2 lisch nodules, optic nerve glioma, pathogenomic skeletal dysplasia, and affected 1st degree relative
Manifestations of NF1 by age
infant/child- cafe au laits, plexiform neurofibromas
prepuberty - freckling, optic gliomas
adolescence - lisch nodules, dermal/subq neurofibromas
adult - malignant peripheral sheath tumors
skeletal manifestations in NF1
sphenoid wing dysplasia + congenital tibial psuedoarthrosis
neurological manifestations in NF1
optic glioma - may lead to blindness
notable tumors in NF1
malignant peripheral sheath tumor (**often starts as rapidly growing OR painful plexiform neurofibroma), but may also have pheochromocytoma, wilm’s tumors, CML
what is Watson syndrome?
NF1 features + pulmonic stenosis
There is a notable triad feat. NF?
NF1, JXG (juvenile xanthogranuloma), juvenile CML
What is the most common cause of death in NF2 patients?
CNS tumors (e.g. intracranial meningioma, spinal ependymoma)
NF2: defect and mode of inheritance?
AD, defect in NF2 gene (encodes schwannomin/merlin)
what is the prognosis of NF2?
poor prognosis, most patients will have worsening hearing/vision/ambulation.
clinical findings of NF2?
subq neurofibromas (w/overlying pigment or hair), bilateral vestibular schwannomas/acoustic neuromas, and < 2 cafe au lait
schwannomatosis
similar to NF2, however they do no have acoustic neuroma/vestibular schwannoma. But they do have multiple schwannomas
