Türk Nöroşirürji Dergisi
2017 , Vol 27 , Num 2
Neurocutaneous Syndromes-Phacomatoses
1Gazi Üniversitesi, Tıp Fakültesi, Pediatrik Nöroşirürji Bilim Dalı, Ankara, Türkiye
Neurocutaneus syndromes are genetically inherited diseases that involve multiple tissues of ectodermal origin. Due to their
skin manifestations, these syndromes are also called phacomatoses. Up to 67 of these syndromes, which are associated with
tumors ranging from hamartomas to malignant carcinomas, have been described. Therefore, they are a very important issue in
neurooncology. The aim of this paper is to summarize the clinical outlines of the most common neurocutaneus syndromes in the
light of recent developments.Clinical outlines of the six most common neurocutaneous syndromes (Neurofibromatosis type I, Neurofibromatosis type II, Tuberous sclerosis, Sturge-Weber syndrome, Von Hippel Lindau syndrome and Ataxia-telengiectasia) will be discussed in detail. Neurocutaneous syndromes (phacomatoses) result in cancer predisposition and, therefore, are important diseases in daily neurooncological practice.
Anahtar Kelimeler : Neurofibromatosis, Tuberous Sclerosis, Sturge-Weber syndrome, Von Hippel Lindau syndrome, Ataxia-Telengiectasia