Neurocutaneous Disorders in Children

Bruce R. Korf; E. Martina Bebin

doi:10.1542/pir.2015-0118

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Bruce R. Korf, MD, PhD*
E. Martina Bebin, MD^†

Departments of ^*Genetics and
^†Neurology and Pediatrics, University of Alabama at Birmingham, Birmingham, AL

AUTHOR DISCLOSURE
Dr Korf has disclosed that he is coinvestigator on NIH grant 08-UTR001417A for the University of Alabama’s Center for Clinical and Translational Science; principal investigator on Department of Defense NF Clinical Trials Consortium grant W81XWH-12-1-0155; and consultant for Astrazeneca, Novartis, Alexion, Illumina, and Accolade. He has received honoraria from 23andMe and Sequenom to attend roundtable meetings and to speak at meetings. He also serves as an advisor for Envision Genomics and Genome Medical, and has conducted a CME Course for Quantia. Dr Bebin has disclosed that she is a consultant and site principal investigator for Novartis Pharmaceuticals epilepsy clinical trials and a consultant for GW Pharma epilepsy trials. She receives NIH-NINDS grant funding for tuberous sclerosis research studies, serving as principal and coinvestigator, respectively, on NIH grants F121213001 and F120629001. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Abstract

Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come.