Neurofibromatosis Type 1 with Unusual Oral Manifestations

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 ...

Oncologic manifestations in children with neurofibromatosis type 1 in Turkey.

Children with neurofibromatosis type 1 (NF1) are predisposed to malignancies such as brain tumors, leukemia, and pheochromocytomas. The aim of this study was to evaluate malignancy in patients with NF1. We studied 120 patients with NF1 in this study. Demographic data from these patients were retrospectively reviewed. We found 20 malignancies in 19 patients in our study. Ten children with NF1 ha...

Uncommon Oral Manifestations of Neurofibromatosis Type I: A Case Report