Neurofibromatosis 1 in childhood

Abstract

Neurofibromatosis 1 (NF1) is an autosomal-dominant disorder with an incidence of approximately 1 in 3,000. The cardinal features of the disorder are cafe au lait spots, axillary freckling, cutaneous neurofibromas, and iris hamartomas (Lisch nodules). Common complications include learning disability, scoliosis, and optic gliomas. Other complications (e.g., peripheral nerve malignancy, bony deformities, and epilepsy) are individually rare. The mainstay of care for patients with NF1 is anticipatory guidance, and the early detection and symptomatic treatment of disease complications. Counseling of patients and their families should provide a realistic overview of possible disease complications, while emphasizing that most individuals with NF1 lead healthy and productive lives. The gene for NF1 has been identified, and future cell biology research will focus on understanding the pathogenetic mechanisms that underly the diverse manifestations of the disorder.