Phacomatosis

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Uludağ Üniversitesi Tıp Fakültesi Dergisi
Cilt: 51 Sayı: 1
Phacomatosis

Phacomatosis

Authors : Selin Baykan, Mevlüt Özgür Taşkapılıoğlu

Pages : 145-151

Doi:10.32708/uutfd.1571590

View : 55 | Download : 78

Publication Date : 2025-05-27

Article Type : Review Paper

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.
Keywords : fakomatozlar, nörofibromatozis, optik gliom, von hippel-lindau, tuberoskleroz

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