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Solitary plexiform neurofibromas of the intraparotid facial nerve are extremely rare tumours that can present a diagnostic challenge. Knowledge of their existence is key to its proper management. Only two cases have been reported in the English literature. We describe the first paediatric case of an intraparotid facial nerve solitary plexiform neurofibroma.
Neurofibroma is a tumor deriving from elements of neural tissue of the peripheral nerves. Its localization in the jaws is rather rare. A case of mandibular neurofibroma is presented.
A case of a combined neurofibroma-granular cell tumor in a 52 years old gunsmith is presented. The tumor developed after an intracranial trigeminal nerve operation 25 years previously. The solid tumor in the left middle cranial fossa had displaced and infiltrated the temporal lobe. It had expanded via the optic nerve into the left orbit, and further the apex partis petrosae was destroyed. The neurofibroma part shows histological aspects of malignancy, the granular cell tumor, considering its infiltrating and destructive growth, may be regarded as malignant as well. In intermingling portions of the tumor, transitional types of fiber-like and granular cells are prominent. In the peripheral zone of the tumor apparently reactively proliferated polynuclear astrocytes are seen with occasionally intracytoplasmatic lymphocytes (emperipolesis?). A short review of the literature and the theories concerning the histogenesis of the granular cell tumor is given. Whereas most authors in recent years suggest a Schwann cell origin, based on electron microscopic findings, this intermediate tumor type motivates us to postulate a mesodermal origin of the granular cell tumor. The question of viral influence is discussed briefly.
Nine cases of solitary nerve neoplasm are reported. They include five neurilemomas and four neurofibromas in the nerve trunks of upper limbs. The neurilemomas were derived from a proliferation of the Schwann cells of a single nerve funiculus and could easily be enucleated from the remaining funicular groups, which remained intact and functioning. The neurofibromas, on the other hand, invaded and destroyed the funicular structure of the nerve, requiring nerve resection or nerve graft to restore continuity.
A 45-year-old female patient with a neurofibroma of the hypopharynx is reported. She had complained of swallowing discomfort for 3 months. Indirect laryngoscopy showed an oval tumor with a smooth surface in the posterior wall of the hypopharynx. Xeroradiography was effective for defining the tumor. Removal of the tumor was performed by an infrahyoid horizontal pharyngotomy under general anesthesia. The tumor had an indistinct capsule. The nerve from which the tumor originated was not clear. Histologically, the tumor was diagnosed as neurofibroma. The patient had no other neurogenic tumor and has been well without recurrence after the surgery.
We present a case of neurofibroma of the nasal inferior turbinate operated under endoscopic control. A 29 year-old female reported progressive left-side nasal obstruction over the past year. Endoscopic examination revealed a mass arising from the left inferior turbinate. Evaluation of multiple sections of the mass by hematoxylin and eosin, S-100 protein and neuron specific enolasa stains showed the tumor to be a neurofibroma.
Neurofibromas occurring in the breast are very rare. A 10-year-old boy with neurofibromatosis type 1 (NF1) presented with a palpable mass on his left breast. US showed a well-defined and hypoechoic solid mass within the subcutaneous fat tissue in the areolar area. Mass was isointense compared to muscle and hypointense compared to fat tissue on TIW and T2W MR images. Excisional biopsy was applied to the mass. The diagnosis of gynecomastia and neurofibroma was made on the basis of histopathological and immunohistochemical findings.
A case report of a massive plexiform neurofibroma of the sympathetic trunk is reported. Symptoms included dysphagia, shortness of breath and paraesthesia of the right hand. The nerve of origin and extent of the tumour were unusual. The tumour mass partially filled the right hemithorax, surrounded the right brachial plexus, extended to the base of skull and invaded the cervical vertebrae threatening to compromise the spinal cord. Surgical resection required combined cardiothoracic, neurosurgical and plastic and reconstructive surgical teams. Early outcome following surgery was excellent. This case illustrates the need for a combined surgical approach for such a lesion and we believe it is the first reported case of plexiform neurofibroma of the sympathetic trunk.
Although neurofibroma is a rare orbital tumor, ophthalmic nurses may have the first opportunity to observe patients with this tumor. These patients may first be seen with normal visual acuity, proptosis, or affected ocular motility. An interesting patient who was diagnosed with an orbital neurofibroma is presented.
Two cases of neurofibroma of the paranasal sinuses are presented. The tumours presented as space-occupying lesions and were treated by local excision. Histologically one was a typical neurofibroma, whilst the other showed some features of a schwannoma. The patients show no evidence of tumour recurrence at 18 and 6 months respectively.
The authors describe a rare case of plexiform neurofibroma of the cervical portion of the vagus nerve, and discuss its aetiopathogenesis, clinical, histological and therapeutic features, emphasizing the difference from other benign tumours of the vagus nerve. The clinical characteristics of the mass, ultrasound tomography, CT scanning and digital subtraction angiography were useful in defining its extension and relationships with the surrounding structures. Surgery is the treatment of choice. After mentioning the most commonly employed surgical approaches, they emphasize the advantages of the lateral-cervical approach which allows a wide exposure of the possible sites of origin of the tumour and its complete removal. Finally they stress the need of an accurate histological and immunohistochemical examination in order to differentiate neurofibromas from neurilemmomas.
Plexiform neurofibroma of the larynx is a rare disease. Three cases in children with airway obstruction are presented. After tumour reduction via a lateral pharyngotomy their tracheostomies could be closed. The surgical treatment of plexiform neurofibroma of the superior laryngeal nerve is discussed and conservative, subtotal resection is recommended.
Neurofibroma affecting the major salivary gland is uncommon. This tumour is particularly rare in the submandibular and sublingual gland. Here, a case of solitary plexiform neurofibroma of the submandibular gland without any other manifestations of von Recklinghausen's disease is presented. It is probably the first case report of this tumour invading the submandibular gland in a solitary form.
A case is presented of a 36-year-old male with narrowing of the external meatus due to a diffuse neurofibroma. This unusual variety of neurofibroma spreads superficially and has many ecstatic blood vessels. The size, vascularity, uncertain edges and a tendency to recur makes surgical removal difficult. The treatment options are discussed.
The authors report, for the first time, the finding by magnetic resonance imaging of a neurofibroma at the craniocervical junction with upper cervical cord and lower brainstem compression causing complete apnea from birth. Subsequent subtotal resection of the neurofibroma resulted in the successful extubation of a previously ventilator-dependent patient. After a two month period of breathing spontaneously, the newborn developed an upper respiratory tract infection and was reintubated. The patient, unable to be weaned off of the respirator, was extubated and expired shortly thereafter, at the age of five months. The authors suggest that in newborns with unexplained apnea, MRI of the cranio-cervical junction is indicated. Certain patients may be discovered who have less compromised cervico-medullary function and are afflicted by less aggressive forms of neurofibromatosis type 1. These patients may benefit permanently from a surgical decompression.
Pure populations of neurofibroma-derived Schwann cells bearing both NF1 mutated alleles (NF1-/-) have been isolated from different neurofibromas showing loss of heterozygosity of nearly the entire 17q chromosome. By comparing molecular and fluorescent in situ hybridization analysis of these cells, we demonstrate mitotic recombination is the mechanism underlying this type of loss of heterozygosity leading to reduction to homozygosity of NF1 germline mutation.
Fetal antigen 1 (FA1) is a 26-32 kDa glycoprotein containing six epidermal growth factor-like repeats closely related to the delta/notch/serrate proteins in Drosophila. FA1 has been shown to be involved in cell differentiation in a juxtacrine/paracrine manner. As neurofibromatosis type 1 (NF-1), also called von Recklinghausen disease, involves aberrant growth of tissues derived from the neural crest, the expression of FA1 was examined in neurofibroma skin biopsies and serum from patients with NF-1. FA1 was found in the spindle cells of all (n = 10) skin tumour specimens from adult NF-1 patients, whereas normal dermis was FA1 negative. In adults, the serum FA1 levels were significantly higher in NF-1 patients (n = 13) than in normal healthy controls (n = 177) (P = 0.037). In the group of children with NF-1 (n = 9), significantly higher serum FA1 levels were observed in those known to have complications with cerebral or spinal involvement (n = 4) (P = 0.014). The presence of FA1 in neurofibroma specimens and the elevated serum levels in patients with NF-1 suggests that FA1 may be involved in the pathogenesis of NF-1, perhaps acting as a growth promoting factor.
Two cases of pigmented neurofibroma of the skin are reported. In case 1, the tumor was removed from the back of a 55-year-old man with no associated neurofibromatosis. In case 2, the tumor was removed from the abdominal wall of a 21-year-old woman with neurofibromatosis. Both tumors consisted of benign, short spindle cells and multiple foci of scattered melanin-laden cells. In case 1, the spindle cells were arranged in a storiform pattern, resembling features of dermatofibrosarcoma protuberans. Immunohistochemically, the spindle cells of both cases were demonstrated to be positive for S-100 protein and CD34. The melanin-laden cells stained positively for HMB-45. This report describes an additional two cases of pigmented neurofibroma that conform to the new diagnostic criteria for this disease.