Roach E S
Division of Pediatric Neurology, University of Texas Southwestern Medical School, Dallas.
Pediatr Clin North Am. 1992 Aug;39(4):591-620. doi: 10.1016/s0031-3955(16)38367-5.
Many of the neurocutaneous disorders are more common than once suspected, in part because patients with milder forms of the disorders are now more likely to be recognized. Improved diagnostic studies and increasingly specific medical and surgical therapy allow some previously untreatable complications to be successfully managed. Genetic linkage analysis has localized the abnormal gene for some of the hereditary neurocutaneous disorders onto specific chromosomes, and newly developed clinical diagnostic criteria have improved our ability to establish a definite diagnosis in less obvious patients. Thus, the outlook for these patients is no longer uniformly pessimistic.
许多神经皮肤疾病比以往人们怀疑的更为常见，部分原因是现在症状较轻的这类疾病患者更易被识别出来。改进后的诊断研究以及越来越具针对性的内科和外科治疗，使一些以前无法治疗的并发症得以成功处理。基因连锁分析已将某些遗传性神经皮肤疾病的异常基因定位到特定染色体上，新制定的临床诊断标准提高了我们对症状不太明显的患者做出明确诊断的能力。因此，这些患者的前景不再是清一色的悲观。
