Solitary neurofibromal colonic polyps are a rare entity, particularly outside the setting of neurofibromatosis type 1. The clinical significance of such lesions has not yet been established. Though typically benign tumors, neurofibromas have been reported to undergo malignant transformation, with an increased risk of malignancy when associated with neurofibromatosis. In this case report, we pre...

Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...

Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year histo...

In a group of 28 children with neurofibromatosis type 1 aged between 4 and 16 years, neuroradiological findings were correlated with intelligence as measured by the Wechsler scales. The presence or specific location in the brain of T2 weighted prolonged signals on MRI was not associated with cognitive problems. No other physical characteristics associated with neurofibromatosis type 1 were foun...

A 69-year-old man with a medical history of neurofibromatosis was transferred to our hospital for the treatment of an aortic valve mass. His workup identified an aortic valve papillary fibroelastoma based on the absence of signs of infection, thrombus in the left atrium, and valvular destruction or abnormal valvular function. A tumor was excised under cardiopulmonary bypass. The pathology of th...

INTRODUCTION Inflammatory fibroid polyp of the large intestine is uncommon. To our knowledge, this condition has not been reported in a patient with neurofibromatosis. CLINICAL PICTURE In this report, a 66-year-old woman with neurofibromatosis was found to have a large polyp in the caecum. TREATMENT Right hemicolectomy was performed because of the size of the polyp. OUTCOME Pathological e...

Introduction The association of neurofibromatosis with malignant tumours of the neural crest is well documented. Neurofibromatosis may also be associated with other malignant tumours such as carcinoid of the ampulla of Vater (Barber, 1976), adenocarcinoma of the pancreas (Kellar and Logan, 1977), adenocarcinoma of the colon (Jenkins and Gill, 1972), Wilms' tumour (Stay and Vauter, 1977), rhabdo...

Neurofibromatosis type 1 is an autosomal dominant disease characterized by multiple dermatological disorders amongst others. Among the less frequent manifestations are vascular abnormalities. Here, we present a case of spontaneous massive hemothorax in a 39-year-old Caucasian woman with neurofibromatosis 1 and a thoracic meningocele with a lethal outcome despite extensive surgical intervention ...

Neurofibromatosis type 1 (NF1) rarely affects the female genital system. Plexiform neurofibromas are congenital lesions that occur exclusively in patients with neurofibromatosis type I. The vulva is the most frequent genital organ to be affected, whereas vaginal, cervical, uterine, and ovarian neurofibromas have also been reported only rarely. We present an 8 years old girl with plexiform neuro...

The histopathological changes in the temporal bones of one donor individual deceased for complications of neurofibromatosis type 2 are studied. The different modalities of presentation of neurofibromatosis and the criteria for the differential diagnosis are presented. The possibilities of the auditory brainstem implants in this pathology are discussed.