OBJECTIVE To investigate the pattern of malignancies in Chinese patients with neurofibromatosis type 1. DESIGN Historical cohort study. SETTING Queen Mary Hospital and Duchess of Kent Children's Hospital in Hong Kong. PATIENTS Patients with neurofibromatosis type 1 seen between January 1995 and August 2011. RESULTS We identified 123 Chinese patients with neurofibromatosis type 1, diagno...

Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raise...

BACKGROUND Pelvic floor hernias pose a diagnostic and a treatment challange. Neurofibromatosis is a rare systemic disease, and urinary tract involvement is rare. CASE PRESENTATION Here we report a case of a 54-year-old female with multiple neurofibromatosis who presented with features of obstructed defecation and was found to have a large perineal hernia. At surgery, we found an unusual herni...

Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raise...

Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin. Significant progress in understanding the pathophysiology of this disease has occurred in recent years, largely aided by the development of relevant animal models. Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, wh...

Background Type 1 neurofibromatosis occurs in every 3,000 individuals, representing 90% of cases neurofibromatosis. Hearing impairments are not commonly described as an alteration resulting from the pathology; however, sensorineural hearing losses with retrocochlear characteristics may occur a result presence acoustic neurinomas. Objectives To assess electrophysiological and electroacoustic ind...

INTRODUCTION The neurofibromatoses are inherited tumor predisposition syndromes involving two major clinical phenotypes: neurofibromatosis type 1 (von Recklinghausen's disease) is linked to chromosome 17q, and tends to occur seven times more frequently than neurofibromatosis type 2. Neurofibromatosis type 1 entails a distinctive cutaneous manifestation prevailed upon by benign neurofibromas, wh...

INTRODUCTION The combination of neurofibromatosis and liposarcoma is very rare. We present a case of a dedifferentiated liposarcoma in the forearm, as a complication in a patient with neurofibromatosis type 1. CASE PRESENTATION A Caucasian man with neurofibromatosis type 1 presented at our clinic complaining of a slow growing swelling on his left forearm over a period of one and a half years....

OBJECTIVE To assess prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis and its malignant potential. METHODS A retrospective study was conducted through analysis of the database at Centro Nacional de Neurofibromatose [Brazilian Neurofibromatosis Center], collected from the following reference services between 1996 and 2004: Instituto de Dermatologia ...

An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. The objective of the present study was to define diffuse lung disease in patients with neurofibromatosis. A retrospective case series and literature review in a tertiary care academic medical centre is reported in which medical records, chest rad...