Hersh Joseph H
Pediatrics. 2008 Mar;121(3):633-42. doi: 10.1542/peds.2007-3364.
Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and development. Some features of neurofibromatosis 1 are present at birth, and others are age-related abnormalities of tissue proliferation, which necessitate periodic monitoring to address ongoing health and developmental needs and to minimize the risk of serious medical complications. This clinical report provides a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of neurofibromatosis 1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the growth, development, and health of an affected child.
神经纤维瘤病1型是一种多系统疾病，主要累及皮肤和神经系统。其人群患病率为1/3500。该病通常在儿童早期被识别，此时皮肤表现明显。虽然神经纤维瘤病1型具有显著的临床变异性，但从生长发育的角度来看，大多数患病儿童情况良好。神经纤维瘤病1型的一些特征在出生时就存在，其他则是与年龄相关的组织增殖异常，这需要定期监测以满足持续的健康和发育需求，并将严重医疗并发症的风险降至最低。本临床报告回顾了确诊所需的临床标准、神经纤维瘤病1型的遗传模式、其主要临床和发育表现，以及监测和提供干预的指南，以最大限度地促进患病儿童的生长、发育和健康。
