Neurofibromatosis type 1 (NF1): diagnosis and management

RE Ferner, DH Gutmann - Handbook of clinical neurology, 2013 - Elsevier
Abstract Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major
impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a
predisposition to benign and malignant tumor formation and the hallmark lesion is the
neurofibroma, a benign peripheral nerve sheath tumor. The gene for NF1 was cloned on
chromosome 17q11. 2 and neurofibromin, the NF1 protein, controls cell growth and
proliferation by regulating the proto-oncogene Ras and cyclic adenosine monophosphate …