Crawford Alvin H, Schorry Elizabeth K
Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
J Pediatr Orthop. 2006 May-Jun;26(3):413-23. doi: 10.1097/01.bpo.0000217719.10728.39.
Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses a spectrum of multifacted disorders and may present with a wide range of clinical manifestations, including abnormalities of the skin, nervous tissue, bones, and soft tissues. The condition can be conclusively diagnosed when 2 of 7 criteria established by the National Institutes of Health Consensus Development Conference are met. Most children with NF-1 have no major orthopedic problems. For those with musculoskeletal involvement, the most important issue is early recognition. Spinal deformity, congenital tibial dysplasia (congenital bowing and pseudarthrosis), and disorders of excessive bone and soft-tissue growth are the three types of musculoskeletal manifestitations that require evaluation. Statistics gathered from the Cincinnati Children's Hospital Neurofibromatosis Center database of 588 patients show the incidence of spinal deformity in children with NF-1 to be 21%; pectus deformity, 4.3%; limb-length inequality, 7.1%; congenital tibial dysplasia, 5%; hemihypertrophy, 1.4%; and plexiform neurofibromas, 25%. The orthopedic complications can be managed, but only rarely are they cured. Current developments in molecular genetics are exciting and give hope to more positive outcomes.
1型神经纤维瘤病（NF-1），也称为冯雷克林霍增氏病，是最常见的人类单基因疾病之一，全球至少有100万人受其影响。它包含一系列多因素疾病，可能表现出广泛的临床表现，包括皮肤、神经组织、骨骼和软组织的异常。当符合美国国立卫生研究院共识发展会议制定的7项标准中的2项时，即可确诊该病。大多数患有NF-1的儿童没有严重的骨科问题。对于那些有肌肉骨骼受累的儿童，最重要的问题是早期识别。脊柱畸形、先天性胫骨发育异常（先天性弓形腿和假关节）以及骨骼和软组织过度生长紊乱是需要评估的三种肌肉骨骼表现类型。从辛辛那提儿童医院神经纤维瘤病中心数据库收集的588例患者的统计数据显示，NF-1患儿脊柱畸形的发生率为21%；胸壁畸形为4.3%；肢体长度不等为7.1%；先天性胫骨发育异常为5%；半身肥大症为1.4%；丛状神经纤维瘤为25%。骨科并发症可以得到治疗，但很少能治愈。分子遗传学的当前发展令人振奋，并为取得更积极的结果带来了希望。
