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We present a case of laryngeal neurofibroma associated with neurofibromatosis type 2. Although laryngeal neurofibromas have previously been reported in cases of neurofibromatosis type 1, their presence has never been described in a patient with neurofibromatosis type 2.
We report on an isolated cervical vagus nerve neurofibroma in a patient with neurofibromatosis Recklinghausen. B-scanechography showed a well limited tumor without infiltration of adjacent structures and with cranial and caudal dendrites. The inner structure of the neurofibroma was characterized by a homogenous picture of low ultrasound reflection. Although ultrasound allows an exact description of the tumor's topography, it is impossible to give a histological interpretation by the sonomorphology.
A case of schwannosarcoma associated with a pleural neurofibroma and a parathyroid adenoma is presented. The neuroectodermal origin and the relationship with neurofibromatosis are discussed. The sarcomatous relapse of a schwannoma previously classified as benign confirms the difficulty of microscopic analysis and the malignancy power of the tumor. A long survival is obtained by a large intestinal and mesenteric resection as long as hepatic metastases are not present or can be resected. The pleural neurofibroma needs symptomatic treatment while parathyroid adenoma must be early removed as soon as malignant hypercalcemia is detected.
Clinical manifestations of von Recklinghausen's disease on the plantar aspect are very rare. Most of the neurofibromas involving the skin are asymptomatic, but when they occupy an unusual position or attain a large size, they lead to significant disability. A case report and the surgical treatment of a 39-year-old female with the pathognomonic clinical characteristics, along with a symptomatic plantar neurofibroma, are presented. The pathogenesis, clinical manifestations, diagnosis, complications, and treatment of this progressive disease are described in this report.
A patient with a zoniform neurofibromas of the left arm and forearm is studied. The disease is associated to an epithelial pathology of trichylemi cysts of the scalp. The differential diagnosis can be that of Von Recklinhausen's disease. By the lack of positive elements for these disease, the authors consider it is a nevi malformation with nervous cells, that it presents clinically by multiples neurofibromas with a characteristic distribution.
von Recklinghausen's disease, or type I neurofibromatosis, a common familial tumor syndrome, is characterized by the occurrence of multiple benign neoplasms of nerve sheath cells. The disease is caused by germ-line mutations of the NF1 gene, which encodes a member of the GTPase-activating superfamily of Ras regulatory proteins. We analyzed 5 dinucleotide repeat loci in DNAs from neurofibromas and matched normal skin from 16 NF1 patients. Eight cases (50%) manifested microsatellite alterations. Expansions or compressions of dinucleotide repeats were observed at one locus in four cases and at two loci in one case. Banding patterns compatible with the loss of a microsatellite allele were observed in four cases, including one that also presented microsatellite instability. The surprisingly high frequency of microsatellite alterations suggests that the NF1 gene or another gene(s) contributing to the pathogenesis of neurofibromas might be directly or indirectly implicated in the control of genomic integrity.
The second case of multiple halo neurofibromatosis is reported. Halo neurofibromas are rare benign tumors that appear on the neck and trunk of adults. The clinical and histopathological differential diagnosis of the other neuroectodermally derived halo lesions, such as neural nevus, nevocellular nevus, spindle and epitheloid cell nevus, blue nevus, and malignant melanoma, also is considered. An autoimmune hypothesis is proposed to explain the depigmentation in the halo neurofibroma. The fact that the patient has café au lait spots that contain giant pigment granules probably indicates that he also has neurofibromatosis.
A 24-year-old man with neurofibromatosis and adjacent malignant schwannoma and neurofibroma of an intrathoracic vagus is reported. He survived for eight months, developing massive recurrence three months after surgical extirpation. Review of the 13 previously documented patients with neurofibroma of the intrathoracic vagus indicates that most patients have neurofibromatosis. The thickest portion of the intrathoracic vagi, the proximal portions and most often the left nerve, is the site of predilection. In about half, multiple neurofibromata of the nerve may be present. Malignant schwannoma of the mediastinum is discussed and it would appear that neurofibromatosis is not a predisposing factor.
A 19-year-old man with neurofibromatosis type 1 showed a cutaneous plaque on the right scapular area with grayish coloration and atrophic appearance. Histopathologic examination demonstrated features of neurofibroma. Dermatologists should be aware of this uncommon clinical variant of neurofibroma in order to diagnose neurofibromatosis.
Mesenteric neurofibroma associated with von Recklinghausen's disease is rare. Herein, we present one such case. A 15-year-old mentally retarded Japanese boy presented with destruction of the right 2nd and 3rd ribs on a routine chest roentgenogram. Physical examination revealed a funnel chest and multiple cafe-au-lait spots, but no cutaneous nodules. Although the patient had no symptoms, a computed tomography (CT) and angiogram were performed. There were no definitive findings of malignancy in the tumors. However, since there were two risk factors for malignancy, specifically, a young age at the time of diagnosis and multiple tumors, and coupled with the size of the abdominal tumor which was large, the abdominal mesenteric tumor was removed. Pathological examination showed a neurofibroma with no evidence of malignancy.
OBJECTIVES: To identify presenting symptoms, growth patterns, and outcomes of head and neck plexiform neurofibromas (PNs) in children with neurofibromatosis type 1 (NF-1); to determine which patients may benefit most from operative intervention in terms of duration of disease-free progression, perioperative morbidity, identification of malignancy, and symptom relief. DESIGN: A retrospective review of 39 pediatric patients with NF-1 who had PNs of the head and neck managed at a single tertiary referral center. RESULTS: Thirty-nine patients had 49 head and neck PNs, 11 small ( 5 cm and/or involving multiple deep neck sites). Thirty-nine surgical procedures were performed on 18 of 35 patients with massive disease, and 4 procedures were performed on 4 of 11 patients with small tumors. Tumors recurred in 1 (25%) of 4 patients with small tumors and in 18 (100%) of 18 patients with massive tumors (P = .001; mean time to regrowth, 3.1 years.) CONCLUSIONS: Size and location of PN tumors most influenced presentation of clinical symptoms. Complete tumor resection was possible only in patients with small PNs. Patients with PNs of the head and neck were more likely to benefit from surgery if the indications were to (1) exclude malignancy in a rapidly enlarging mass; (2) provide relief from neurogenic pain or motor weakness; (3) improve symptoms caused by airway compression; or (4) enhance cosmesis in those with disfiguring disease.
A left cervical mass developed in a 14-year-old white boy with stigmata of von Recklinghausen's disease. Excision biopsy examination showed a plexiform neurofibroma with angiosarcoma. Ultrastructural studies confirmed the endothelial nature of the malignant cells.
A case of a tumor of the vagus nerve, showing typical features of a neurofibroma, is presented. The natural history is reviewed, and several technical investigations, with particular reference to the contributions of magnetic resonance imaging and immunohistochemical techniques in the differential diagnosis, are discussed.
Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subtypes of PNFs, we screened 42 NF1 patients from 41 families with PNFs for mutations in the NF1 gene. In 33 out of the 41 (80%) unrelated patients NF1 mutations were found, 24 are novel while the other 9 have been described in previous studies. The 33 mutations included 23 nonsense and frameshift, six splice and four missense mutations. The tumors in these patients had various sizes and features/growth characteristics. No correlation was found between the type or location of the NF1 mutations and size, location or feature of the PNFs, suggesting that many types of NF1 mutations can lead to development of PNFs.
We report herein the case of a 71-year-old-Japanese woman who was admitted to hospital for surgical treatment of a lower abdominal tumor. At laparotomy the tumor was found to be pedunculated and growing extramurally from the greater curvature of the stomach. Thus, a wedge resection of the stomach, including the mass, was performed. The tumor measured about 9 x 8 x 7 cm and histological examination of the resected specimen showed that the main elements consisted of wavy, long-spindled cells, which crossed irregularly, indicating that it was palisading negative. Immunohistochemically, the specimen was positive for both S-100 protein and Alcian blue. From these findings, the tumor was histologically diagnosed as a neurofibroma. The patient had an uneventful postoperative course and no signs of recurrence have been recognized in the 3 years since her operation.
The clinical and neuroradiological findings in a rare case of plexiform neurofibroma with bone scintigraphy, myelography and selective spinal angiography are described. The difficulties with the preoperative differential diagnosis from other intraspinal space occupying lesions are discussed and the importance of intraoperative biopsy and electrical stimulation is stressed.
We report neurofibroma discovered incidentally in a woman who suffered trauma to her cheek. The lesion was manifest on CT as a haematoma within a parotid tumour.
A plexiform variant of leiomyoma of the esophagus in a 51-year-old woman is reported. The patient was diagnosed with a tumor of the esophagus in an X-ray mass survey of the upper gastrointestinal tract. She was referred to the Ryukyu University Hospital for further examination. She appeared healthy with no complaints. Upper gastrointestinal series revealed an oval, well-defined filling defect in the lower esophagus just above the esophagogastric junction. Endoscopy revealed an undulating bulge covered with normal esophageal mucosa. Endoscopic ultrasonography showed a sharply demarcated hypoechoic mural tumor with internal linear pattern, with no evidence of penetration into the surrounding tissue. These findings were evaluated as consistent with a leiomyoma. Removing the tumor by enucleation was easily accomplished. Unexpectedly, on gross inspection, the tumor was a plexiform type, mimicking a plexiform neurofibroma. Light and electron microscopic examination and immunohistochemistry of the tumor tissue confirmed leiomyoma. Since the enucleation of the tumor, the patient has been free of recurrence and symptoms for 1.5 years at the time of this report.