A rare case of neurofibromatosis type I

Neurofibromatosis type I (NF-1) is the most common hereditary disease predisposing individuals to tumor formation. The disease is characterized by the appearance of multiple pigmented spots known as café au lait macules, benign tumors called neurofibromas, central nervous system tumors, bone abnormalities, changes in iris pigmentation, and a variety of other symptoms. NF-1 affects approximately 30-40 people per 100,000 population, equivalent to one person in every 2,500 to 3,000 individuals. Neurofibromatosis type I is an autosomal dominant disorder with high penetrance and a high rate of new mutations. The risk of having a child affected by NF-1 is either 50% if the parent is heterozygous or 100% if homozygous. Approximately half of all cases result from mutations. There is no significant difference in NF-1 prevalence across geographical regions or ethnic groups.