Phacomatosis

Öz

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.

Anahtar Kelimeler

• Phakomatosis
• neurofibromatosis
• optic glioma
• von hippel-lindau
• tuberosklerosis

Fakomatozlar

Öz

Nörokütanöz sendromlar ektodermal kökenli 60’ın üzerinde tipi tanımlanmış olan cilt bulguları ile bulunan genetik geçişli bir grup hastalıktır. Ataksi-telenjiektazi hariç hepsi otozomal dominant geçişlidir. Bu sendromlar kanser yatkınlığı oluşturdukları ve hamartomlardan malign tümörlere uzanan geniş bir yelpazede tümörlerin oluşumuna neden oldukları için nöroonkolojide son derece önemlidirler. Bu sendromlarda küratif tedavi bulunmamaktadır, tedavileri semptomatiktir ve cerrahi tedavi ancak ciddi nörolojik defisit ve artmış kitle etkisi sebebi ile tercih edilmektedir. Bu yazının amacı sık görülen nörokütanöz sendromların klinik özelliklerini güncel gelişmeler ışığında yeniden özetlemektir.

Anahtar Kelimeler

• fakomatozlar
• nörofibromatozis
• optik gliom
• von hippel-lindau
• tuberoskleroz

Kaynakça

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