Little Heather, Kamat Deepak, Sivaswamy Lalitha
Pediatr Ann. 2015 Nov;44(11):496-504. doi: 10.3928/00904481-20151112-11.
Neurocutaneous syndromes are a diverse group of neurologic disorders with concurrent skin manifestations. Most neurocutaneous syndromes have a genetic basis and are believed to arise from a defect in the differentiation of the primitive ectoderm. In this regard, the skin can be a window into the central nervous system and can aid in the diagnosis of neurologic disease in children. The cutaneous signs may be subtle, which places great importance on the physical examination skills of clinicians providing primary care to children. Early recognition can help with proper diagnosis, formulating a treatment plan, anticipating potential complications, making appropriate referrals, and offering genetic counseling to families.
神经皮肤综合征是一组伴有皮肤表现的多样的神经系统疾病。大多数神经皮肤综合征有遗传基础,被认为源于原始外胚层分化缺陷。在这方面,皮肤可成为了解中枢神经系统的窗口,并有助于儿童神经系统疾病的诊断。皮肤体征可能很细微,这就凸显了为儿童提供初级保健的临床医生体格检查技能的重要性。早期识别有助于正确诊断、制定治疗计划、预测潜在并发症、进行适当转诊以及为家庭提供遗传咨询。