1/127. E.N.T. manifestations of Von Recklinghausen's disease.Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.- - - - - - - - - - ranking = 1keywords = acoustic neuroma, neuroma (Clic here for more details about this article) |
2/127. Malignant melanoma of the choroid in neurofibromatosis.A 60-year-old white woman with generalized neurofibromatosis and multiple melanocytic hamartomas of the iris developed an unusual choroidal mass, with secondary sensory retinal separation in the left eye. Ophthalmoscopically the tumor had a peculiar donut configuration that was caused by a large focus of central necrosis within a spindle B melanoma.- - - - - - - - - - ranking = 0.071608306415709keywords = melanocytic (Clic here for more details about this article) |
3/127. Simultaneous involvement of the jejunum and the colon by type-1 neurofibromatosis.Type-1 neurofibromatosis (NF-1) or Von Recklinghausen disease is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases and which takes three main forms: ganglioneuromatosis, stromal tumors, and tumors in the duodenum and periampullar region. Not infrequently, these patients present with gastrointestinal bleeding. We present the case of a 48-year-old patient diagnosed as having NF-1, with relapsing episodes of gastrointestinal hemorrhage, in which we discovered the simultaneous presence of a stromal tumor in the jejunum together with polypoid and diffuse ganglioneuromatosis in the colon.- - - - - - - - - - ranking = 0.29584072860602keywords = neuroma (Clic here for more details about this article) |
4/127. hearing loss in neurofibromatosis type 1: report of two cases.We report two cases of sixteen year old female patients with NF1 and hearing loss. One patient had only cafe-au-lait spots, while the other patient had severe manifestations of NF1 in form of kyphoscoliosis, requiring multiple laminectomies, vertiginous attacks and optic radiation glioma seen on MRI. Other investigations included pure tone audiograms, autoimmune inner ear disease (AIED) tests. The patient with slight manifestations of NFI had mild to moderate low frequency bilateral sensorineural hearing loss, which showed 20 dB improvement in hearing threshold with steroid treatment. On the other hand, the patient with severe manifestations of NFI disease had profound sensorineural hearing loss with vertiginous episodes. hearing loss which is usually seen in patients with acoustic neuroma, neurofibromatosis type II, is also an important symptom in patients with neurofibromatosis type I.- - - - - - - - - - ranking = 1keywords = acoustic neuroma, neuroma (Clic here for more details about this article) |
5/127. Malignant schwannoma of the stomach in a patient with von Recklinghausen's disease.A patient with von Recklinghausen's disease died with a malignant schwannoma of the stomach and was found at autopsy to have neurofibromatosis of the gastrointestinal tract, a plexiform neurofibroma of the myocardium and a phaechromocytoma. Malignancy of the gastrointestinal tract in von Recklinghausen's disease is rare, and this case highlights the difficulties in histological diagnosis of malignant nerve sheath tumours.- - - - - - - - - - ranking = 10.609563042615keywords = schwannoma (Clic here for more details about this article) |
6/127. Intestinal involvement and vasculopathy in von Recklinghausen's neurofibromatosis.Involvement of the gastrointestinal system and vascular lesions are well-known features of von Recklinghausen's disease, but they are rarely detected in childhood. We report a case of von Recklinghausen's disease with intestinal involvement. The excised right hemicolectomy material of a 16-year-old girl was examined, and diffuse neurofibromatous proliferation with ganglioneuromatous features were observed. Vasculopathy was also seen in some arteries throughout the intestinal segment.- - - - - - - - - - ranking = 0.14792036430301keywords = neuroma (Clic here for more details about this article) |
7/127. Malignant schwannoma with melanocytic differentiation arising in a patient with neurofibromatosis.A 50-year-old woman with von Recklinghausen's disease, but not Carney's complex, presented with a 1-year history of a hard subcutaneous mass on her right hip and right inguinal lymphadenopathy. Histological and immunohistochemical studies of the tumour revealed schwannian and melanocytic characteristics. Local recurrence without distant metastases was observed 5 years later. Although the diagnosis of malignant schwannoma with melanocytic differentiation, rather than neurotropic melanoma, was made for the primary tumour, based on the clinicohistopathological and ultrastructural findings, the overall clinical course in this case did not seem incompatible with malignant melanocytic schwannoma.- - - - - - - - - - ranking = 13.232733796048keywords = schwannoma, melanocytic (Clic here for more details about this article) |
8/127. Adjunctive tumescent technique in massive resections.Tumescent technique for liposuction is a widely used technique. Four cases are reported here in which this technique was used to aid in the resection of massive neuromatous lesions with good postoperative results and minimal morbidity. review of the relevant literature is done.- - - - - - - - - - ranking = 0.14792036430301keywords = neuroma (Clic here for more details about this article) |
9/127. Malignant schwannoma of the sciatic nerve originating in a spinal plexiform neurofibroma associated with neurofibromatosis type 1--case report.A 26-year-old man with neurofibromatosis type 1 (NF1) presented with a giant malignant schwannoma of the sciatic nerve. The differential diagnosis of malignant peripheral nerve sheath tumor (MPNST) was based on clinical, radiological, and histological evidence. The tumor apparently originated in a spinal plexiform neurofibroma. The lesion was resected totally without neural damage to the sciatic nerve. However, the tumor recurred within 2 months. The patient died of unknown factors probably associated with the spinal involvement. MPNST associated with NF1 has a poor prognosis due to recurrence or metastasis despite complete macroscopic removal.- - - - - - - - - - ranking = 10.609563042615keywords = schwannoma (Clic here for more details about this article) |
10/127. Bathing trunk nevus with extensive vascular involvement.An extensive congenital melanocytic nevus is described which, in its deeper portion, had striking neurofibromatous features. At the dermal subcutaneous junction, there were prominent subendothelial collections of nevus cells in large veins. Similar findings have been described in neurofibromatosis. The apparent relationship of these two disorders both histologically and clinically suggests a histogenetic relationship between nevus and schwann cells.- - - - - - - - - - ranking = 0.071608306415709keywords = melanocytic (Clic here for more details about this article) |
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