title: Neurocutaneous Disorders in Children.
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.
authors.affiliation: Departments of Genetics and.
authors.forename: Bruce R
authors.initials: BR
authors.lastname: Korf
authors.affiliation: Neurology and Pediatrics, University of Alabama at Birmingham, Birmingham, AL.
authors.forename: E Martina
authors.initials: EM
authors.lastname: Bebin
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D017253:Neurofibromatoses / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013341:Sturge-Weber Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy