Pediatrics. 2019 May;143(5). doi: 10.1542/peds.2019-0660.
Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Although NF1 is associated with marked clinical variability, most children affected follow patterns of growth and development within the normal range. Some features of NF1 can be present at birth, but most manifestations emerge with age, necessitating periodic monitoring to address ongoing health and developmental needs and minimize the risk of serious medical complications. In this report, we provide a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of NF1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the health and quality of life of a child affected.
神经纤维瘤病 1 型（NF1）是一种多系统疾病，主要涉及皮肤和周围神经系统。其人群患病率约为每 3000 人中有 1 人。这种疾病通常在儿童早期出现色素沉着表现时被识别出来。尽管 NF1 与明显的临床变异性相关，但大多数受影响的儿童的生长和发育模式都在正常范围内。NF1 的一些特征可能在出生时就存在，但大多数表现随着年龄的增长而出现，因此需要定期监测，以满足持续的健康和发育需求，并最大限度地降低严重医疗并发症的风险。在本报告中，我们回顾了建立诊断所需的临床标准、NF1 的遗传模式、其主要的临床和发育表现，以及监测和提供干预措施的指南，以最大限度地提高受影响儿童的健康和生活质量。
