By Disease Name > Neurofibromatosis > NF 2

NF 2

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•AKA bilateral acoustic neurofibromatosis;   central neurofibromatosis
•(I call it “neuromatosis”  or “schwannomatosis”)
•autosomal dominant;  chromosome 22
•symptoms appear at age 15-25 (vs birth or early childhood in NF1)
•pathogenesis:  NF2 gene product = schwannomin (AKA merlin) – has tumor suppressor activity

 

skin:

•neurofibromas – less common than in NF1;  often pigmented with hair
•café au lait – 1 or 2;  large and pale

 

schwannomas:

•bilateral vestibular schwannomas
•may be complicated by deafness, tinnitis, poor balance
•schwannomas of other cranial nerves