Abstract
Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases, affecting 1/4,000 to 1/2,500 individuals. It has autosomal dominant inheritance and approximately 50% of cases are familiar. It is characterized by high variability in phenotypic expression and, as the penetration is virtually complete after 5 years of age, diagnosis based on clinical features is possible in the mo…