Abstract

Nörofibromatozis genetik olarak aktarılan, otozomal dominant bir hastalıktır. Hastalığın oluşumuna 17. Ve 22. kromozomlardaki delesyonlar (silinme) veya mutasyonlar sebep olmakta ve hastalığın tip 1 ve tip 2 olmak üzere iki türü bulunmaktadır. Nörofibromatozis Tip 1, 17. kromozomdaki anomalilerden kaynaklanmaktadır. Etkilenen popülasyonda oral bulguların görülme sıklığı %92’ye kadar yükselmektedir. Dil, oral bölgede en sık etkilenen organdır. Hasta bireylerde, tümör baskılayıcı bir protein olan ve 17. kromozom üzerinde yer alan, NF1 geni tarafından kodlanan nörofibromin üretilmediği için oral kavitede sıklıkla dilde nodüler büyümeler şeklinde veya diffüz makroglossi tarzında nörofibromalar görülmektedir. Bu olgu sunumunda, Nörofibromatozis Tip 1 tanılı hastada bir sublingual nörofibromaya insizyonel biyopsi ile preprotetik amaçlı tedavi yaklaşımımızı sunmayı ve mevcut literatürü tanı kriterleri, klinik özellikler, eşlik eden bozukluklar ve tedavi yöntemleri açısından gözden geçirmeyi amaçladık.

A Sublingual Neurofibroma: A Case Report

Abstract

Neurofibromatosis is a genetically inherited, autosomal dominant disorder. Deletions or mutations on chromosomes 17 and 22 precipitate to neurofibromatosis and there are genetically two types of the it as Type 1 and Type 2. Neurofibromatosis Type 1 is relevant with the abnormalities on chromosome 17. In the affected population, the incidence of oral manifestation is as high as 92%, and the tongue is the most common involved site. Due to the lack of neurofibromin, which is encoded by the NF1 gene located on chromosome 17 and acts as a tumor suppressor protein, neurofibromas are frequently diagnosed on the tongue as nodular growths or diffuse macroglossia in the oral cavity. In this case report we aim to present our approach of treatment with intent to meet patient’s preprosthetic demands by performing an incisional biopsy on a sublingual neurofibroma and review the current literature in terms of diagnostic criteria, clinical features, accompanying impairments and treatment modalities.

Keywords

• sublingual,neurofibroma

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