OBJECTIVE: To review clinical and diagnostic features of neurofibromatosis type 1 (NF1) in children and adolescents. DATA SOURCES: Articles published from 1998 to 2007 and retrieved by the words "neurofibromatosis type 1"; "neurofibroma", "von Recklinghausen" and "optic pathway gliomas" in Medline database. DATA SYNTHESIS: NF1 is a chronic and progressive autosomal dominant disorder with an incidence of 1/2,000 to 1/7,800 live births. There is no racial, geographic or gender preference. Half of the cases represent new mutations, and the mutation rate for NF1 gene is 1/10.000. The high mutation rate of NF1 may reflect the fact that the gene is large and/or that it has an unusual internal structure, predisposing it to deletions and other mutations. The presuntive diagnosis of NF1 is made on clinical basis. The three main features - neurofibromas, café-au-lait spots and Lisch nodules - are present in more than 90% of all affected patients until puberty. CONCLUSIONS: The mainstay of care for patients with NF1 is anticipatory guidance and early detection and treatment of disease complications. Counseling of patients and their families should provide a realistic overview of possible clinical complications, while emphasizing that most individuals with NF1 have healthy and productive lives.
neurofibromatoses; neurofibroma; child