April 22, 2019 – David T. Miller, MD, PhD, FAAP, Debra Freedenberg, MD, PhD, FAAP, Elizabeth Schorry, MD, Nicole J. Ullrich, MD, PhD,
David Viskochil, MD, PhD, Bruce R. Korf, MD, PhD, FAAP
Neurofibromatosis type 1 (NF1) is 1 of the most common inherited genetic conditions, affecting approximately 1 in 3000 individuals.1 NF1 is a multisystem disorder in which some features may be present at birth but most are age-related manifestations. Since the publication of the article “Health Supervision for Children With Neurofibromatosis,” the health supervision and treatment rationale has evolved, necessitating this update.2 In this report, we only address issues concerning the diagnosis and management of NF1, which should not be confused with neurofibromatosis type 2, a separate and distinct disorder that typically presents in childhood and adolescence with cutaneous and vestibular schwannomas and has an incidence of 1 in 33 000 and a prevalence of less than 1 in 50 000.1 Most pediatricians and pediatric medical subspecialists follow multiple children with NF1 in their practices, and NF1 has a wide spectrum of health implications. This document seeks to educate and provide guidance for the clinician on the current understanding of the pathophysiology of NF1, health supervision for children with NF1, and the role of the medical home in caring for children with NF1.