Recent insights into neurofibromatosis type 1: Clear genetic progress

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurogertetic disorder in which affected patients develop both benign and malignant tumors at an increased frequency. Neurofibromatosis type 1 affects approximately 1 in 3000 individuals worldwide, without regard to sex, race, or ethnic background. The hallmark of the clinical disorder is the development of pigmentary lesions (cafe au lait spots, skinfold freckling, and Lisch nodules), distinctive skeletal lesions (sphenoid wing dysplasia and pseudoarthrosis), and tumors, such as optic pathway gliomas and neurofibromas. In addition to these clinical features, 40% to 60% of children with NF1 manifest specific learning disabilities, including attention deficit hyperactivity disorder and deficits in visuospatial processing.