Korf Bruce R, Bebin E Martina
Departments of Genetics and.
Neurology and Pediatrics, University of Alabama at Birmingham, Birmingham, AL.
Pediatr Rev. 2017 Mar;38(3):119-128. doi: 10.1542/pir.2015-0118.
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.
神经纤维瘤病（NF），包括1型（NF1）、2型（NF2）和施万细胞瘤病；结节性硬化症（TSC）；以及斯特奇-韦伯综合征是三种通常在儿童期出现的神经皮肤疾病。儿科医生的早期识别对于监测可治疗的并发症和遗传咨询至关重要。这些疾病通过临床诊断，但可进行基因检测以明确不确定的诊断或帮助进行遗传咨询。虽然许多并发症只能对症治疗，但对发病机制认识的进展正在开启分子靶向治疗的新方法，有望在未来几年改变这些疾病的自然病程。
