@article{article_1571590, title={Phacomatosis}, journal={Journal of Uludağ University Medical Faculty}, volume={51}, pages={145–151}, year={2025}, DOI={10.32708/uutfd.1571590}, author={Baykan, Selin and Taşkapılıoğlu, Mevlüt Özgür}, keywords={fakomatozlar, nörofibromatozis, optik gliom, von hippel-lindau, tuberoskleroz}, abstract={Neurocutaneous syndromes are a group of genetically transmitted diseases with skin lesions, of which more than 60 types have been defined and are of ectodermal origin. Except for ataxia-telangiectasia, all are autosomal dominant. These syndromes are significant in neuro-oncology because they create a predisposition to cancer and cause the formation of a wide range of tumors, from hamartomas to malignant tumors. There is no curative treatment in these syndromes; their treatments are symptomatic and surgical treatment is preferred only due to severe neurological deficits and increased mass effect. This article aims to re-summarize the clinical features of common neurocutaneous syndromes in light of current developments.}, number={1}, publisher={Bursa Uludağ Üniversitesi}