Abstract
Neurofibromatosis type 1 (NF1) is one of the most common genetic pathologies, affecting 1 / 4,000 to 1 / 2,500. Survey published in 2013 estimates an existence of about 80 thousand patients with NF1 in Brazil and approximately 1.5 million in the world. The disease is caused by heterozygous mutations in the tumor suppressor gene NF1, located in 17q11.2. It has, therefore, autosomal dominan…