Barros Felipe S, Marussi Victor Hugo R, Amaral Lázaro L F, da Rocha Antônio José, Campos Christiane M S, Freitas Leonardo F, Huisman Thierry A G M, Soares Bruno P
Division of Neuroradiology, BP Medicina Diagnóstica, Hospital da Beneficência Portuguesa de São Paulo.
Division of Neuroradiology, Department of Radiology, Santa Casa de São Paulo School of Medical Sciences, São Paulo, Brazil.
Top Magn Reson Imaging. 2018 Dec;27(6):433-462. doi: 10.1097/RMR.0000000000000185.
Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. In this article, we review the clinical features, current pathogenesis, and modern neuroimaging findings of melanophakomatoses, vascular phakomatoses, and other rare neurocutaneous syndromes that may also include tissue overgrowth or neoplastic predisposition.
错构瘤病，也称为神经皮肤疾病，包括大量主要影响起源于外胚层的结构的疾病，如中枢神经系统和皮肤，但也影响中胚层，特别是血管系统。关于最常见的错构瘤病，即神经纤维瘤病、结节性硬化症、冯·希佩尔-林道病和斯特奇-韦伯综合征，有大量文献记载。然而，对不太常见的错构瘤病分子基础认识的最新进展引发了人们对这些疾病的兴趣。在本文中，我们综述了黑素错构瘤病、血管错构瘤病以及其他可能还包括组织过度生长或肿瘤易感性的罕见神经皮肤综合征的临床特征、当前发病机制和现代神经影像学表现。
