Spinal Cord Tumors in Neurofacomatosis

Abstract

Neurofacomatosis (phakomatoses) are a group of neuro-oculocutaneous disorders characterized by involvement of structures that arise from the embryonic ectoderm—thus, the central nervous system (CNS), skin, and eyes. The phakomatoses concept was formulated in 1923 by ophthalmologist Van Der Hoeve to describe three disorders (neurofibromatosis, tuberous sclerosis, and von Hippel-Lindau syndrome) according to their ophthalmologic manifestations (Greek phakos means birthmark). However, it has been subsequently noted that mesodermal and endodermal tissues are also involved. A number of genetic and acquired diseases come in this category and may affect one or more organ systems. They tend to form tumors in various organs, particular the nervous system. Now, neurofacomatosis are also termed as “neuroectodermatoses” or “neurocutaneous syndrome.” Intramedullary spinal cord tumors are rare. They account for only 4–6% of all CNS tumors. In this chapter, we survey the neurocutaneous tumor syndrome and intramedullary spinal cord tumor associated with the three major neurofacomatosis: Neurofibromatosis type I (NF1), Neurofibromatosis type 2 (NF2), and von Hippel-Lindau syndrome (VHL).