Department of Neurosurgery/Division of Pediatric Neurosurgery, University of Utah/Primary Children's Hospital, 100 N. Mario Capecchi Drive Suite 3850, Salt Lake City, UT 84113, USA.
Pediatric Neuro Spine Program, Pediatric Cerebrovascular Surgery, Division of Pediatric Neurosurgery, Department of Neurosurgery, Washington University School of Medicine, 1 Childrens Pl Suite 4S20, St. Louis, MO 63110, USA.
Neurosurg Clin N Am. 2022 Jan;33(1):81-89. doi: 10.1016/j.nec.2021.09.013. Epub 2021 Oct 28.
The phakomatoses are a group of genetic and acquired disorders characterized by neurologic, cutaneous, and often ocular manifestations, thus commonly referred to as neurocutaneous syndromes. In several of these conditions the underlying genetic pathophysiology has been elucidated, which will continue to play an important role in advancing therapeutic techniques. This article focuses on several examples of such neurocutaneous syndromes, with special attention to the relevant neurosurgical considerations of these patients.
色素失调症是一组遗传性和获得性疾病,其特征为神经、皮肤和眼部表现,因此通常被称为神经皮肤综合征。在这些疾病中,一些疾病的潜在遗传病理生理学已被阐明,这将继续在推进治疗技术方面发挥重要作用。本文重点介绍几种神经皮肤综合征的病例,并特别关注这些患者的相关神经外科注意事项。