Neurocutaneous Syndromes and Associated CNS Tumors

Abstract

In the Greek language, Phakos means spot, mole, or lentil, and phakomatosis suggests the presence of a congenital lesion or birthmark (Berg 1991). Historically, this term was applied to a group of genetic disorders defined by the involvement of the central nervous system (CNS), skin, and one or more body systems. Over time, this group expanded to include over 40 entities, each with its own specific features (Chalhub 1976). This chapter reviews six of the more common neurocutaneous syndromes and the current designation for these disorders, with a particular emphasis on the CNS tumors occurring in each disease: neurofibromatosis types 1 (NF1) and 2 (NF2), tuberous sclerosis (TS), ataxia telangiectasia (AT), von Hippel–Lindau (VHL), and Sturge–Weber syndrome (SWS). Other comprehensive reviews discuss each entity in detail (Ranger et al. 2014; Lin and Gutmann 2013; Karajannis and Ferner 2015; Rovira et al. 2014; Chaudhary and Al-Baradie 2014; Vortmeyer et al. 2013; Sudarsanam and Ardern-Holmes 2013). More up-to-date information on current molecular genetics is also available through the Online Mendelian Inheritance in Man website (http://www.ncbi.nlm.nih.gov/omim/ ).