Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with highly variable expression. While NIH consensus criteria identify most NF1 patients by 8 years of age, these criteria may be inadequate for younger children. Until criteria are modified to be more inclusive of a younger age group, or until reliable genetic testing for NF1 becomes widely available, clinicians must maintain a high index of suspicion for NF1 in any young patient with multiple café-au-lait macules. Until the development of a definitive treatment for NF1, a multidisciplinary approach beginning as early as possible continues to be the best available course of treatment for children with NF1.