Oral Manifestations of Neurofibromatosis Type 1

Neurofibromatosis Type 1 with Unusual Oral Manifestations

Neurofibromatosis (NF) is a genetically transmitted autosomal dominant disorder with variable penetrance and about 50% of cases representing new mutations. It is progressive in nature and one of its unique feature is the diversity of clinical expression from one patient to another and even within a family. The disease is often characterized by complex and multicellular neurofibroma. It may also...

Neurofibromatosis type 1 and cardiac manifestations.

OBJECTIVE Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac abnormalities in patients with NF1. METHODS Sixty-five NF1 patients (mean age: 9±4.48 years) were retrospectively studied. Standard electrocardiography and echocardiography were performed in all pa...

Ophthalmological manifestations in segmental neurofibromatosis type 1.

AIMS To study the ophthalmological manifestations in individuals with the typical features of neurofibromatosis type 1 (NF1) circumscribed to one or more body segments, usually referred to as segmental NF1. METHODS Visual acuity and colour tests, visual field examination, slit lamp biomicroscopy of the anterior segment, and a detailed examination of the retina by indirect ophthalmoscopy were ...

Uncommon Oral Manifestations of Neurofibromatosis Type I: A Case Report

Oncologic manifestations of neurofibromatosis type 1 in Korea

PURPOSE The aim of this study was to investigate the incidence and spectrum of malignant tumors in Korean neurofibromatosis type 1 (NF1) patients. METHODS We retrospectively reviewed 125 patients who were diagnosed with NF1 at a single institution from 1995 to 2010. The incidence, location, histologic type, and radiologic findings of malignant tumors as well as development of multiple primary...