Neurofibromatosis

BR Korf - Handbook of clinical neurology, 2013 - Elsevier
The “neurofibromatoses” are a set of distinct genetic disorders that have in common the
occurrence of tumors of the nerve sheath. They include NF1, NF2, and schwannomatosis. All
are dominantly inherited with a high rate of new mutation and variable expression. NF1
includes effects on multiple systems of the body. The major NF1-associated tumor is the
neurofibroma. In addition, clinical manifestations include bone dysplasia, learning
disabilities, and an increased risk of malignancy. NF2 includes schwannomas of multiple …