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[Intercostal neurofibroma in a patient with von Recklinghausen's disease. Diagnostic utility of helical CT and nuclear magnetic resonance].

A 44 year-old man with a type I Neurofibromatosis (NFI) and an intercostal mass is presented. By means of percutaneous fine needle aspiration punction under CT control, this tumor could be diagnosed of neurofibroma. It is important to remark not only the role of helical CT with anatomical reconstruction in the diagnosis of intercostal tumors, but also that intercostal location of neurofibromas has been rarely reported in the literature. Because of frequent association between NFI and neoplasms, it is always necessary to perform histological study of every new tumor that appears in the course of this entity.

Adult↗

Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas.

Cell cultures grown from peripheral neurofibromas of three patients suffering from sporadic peripheral neurofibromatosis (NF) were analysed cytogenetically at early in vitro passages. The NF-cultures exhibited a 6.7-fold higher frequency of aneuploid mitoses, including pseudodiploids, than the control cultures derived from the skin of three healthy donors. The predominant numerical anomaly was monosomy 22. Several, as yet unidentified marker chromosomes occurred in the NF-cultures, which also showed a much higher level of unstable chromosomal anomalies. The role of monosomy 22 in tumorigenesis of meningiomas and neurofibromas is discussed.

Cells, Cultured↗

Neurofibroma-derived fibroblast-stimulating factor in the serum of patients with neurofibromatosis (von Recklinghausen's disease).

The effect of serum from patients with von Recklinghausen's disease [neurofibromatosis (NF)] on the cell growth and DNA synthesis of cultured neurofibroma-derived cells (NF fibroblasts grown from explant cultures of cutaneous neurofibromas from seven NF patients, and Schwann cells from a single-cell-suspension culture of the sample from one of these patients) was examined. Serum from patients with NF, whether autologous or allogeneic, enhanced the growth and 3H-thymidine uptake of NF fibroblasts twice as much as non-NF serum. Further study revealed that a dialysable, low-molecular-weight factor isolated from pooled NF serum was responsible for the stimulation of NF fibroblasts. This factor did not influence the DNA synthesis of either dermal fibroblasts cultured from non-NF patients or of Schwann cells. In contrast, no dialysable fraction of pooled serum from healthy persons exhibited such an NF-fibroblast-stimulating activity.

Adult↗

Plasminogen activators and their inhibitor gene expression in cutaneous NF1-related neurofibromas.

Cutaneous neurofibromatosis 1 (NF1)-related neurofibromas are benign tumors and composed of Schwann cells, perineurial cells and/or fibroblasts, endothelial cells, mast cells and macrophages. Extracellular proteolysis namely plasminogen activation (PA) operates in many tissue destructive processes. We wanted to study plasminogen activators, urokinase (uPA) and tissue type (tPA) and their inhibitor PAI-1, which have not earlier been studied comprehensively in cutaneous NF1-related tumors. We analyzed the distribution of uPA, tPA and PAI-1 antigen level by immunohistochemistry and mRNA level by in situ hybridization, to identify which cells are primarily involved in proteolytic activity and plasminogen activation. Twelve NF1 skin tumor samples from six patients were obtained during the operations. Mast cells, macrophages and endothelial cells were distributed only locally. Their expression levels of PA components were not so notable. Large extent of tumor cells of Schwann cell origin and prominent expression levels of uPA, tPA and PAI-1 indicated that these cells are responsible for the main source of PA components in cutaneous NF1-related neurofibromas.

Adult↗

Laryngeal neurofibroma: case report of a child.

Neurofibromatosis is characterized by multiple café-au-lait spots and cutaneous neurofibromas. Laryngeal involvement in neurofibromatosis is rare and is usually manifested by obstructive airway symptoms. We encountered a 1 year 8-month-old girl who was a victim of neurofibromatosis with the presentation of stridor. Fiberoptic laryngoscopy revealed a round smooth mass over the right aryepiglottic fold which prolapsed into the larynx during inspiration. Carbon dioxide laser excision was performed and histopathologic examination revealed a plexiform neurofibroma. The patient had regular follow up for almost 4 years. Even though there seemed to be a recurrence, she remained symptom free.

Biopsy, Needle↗

Syndrome of multiple mucosal neurofibromas, pheochromocytoma and medullary thryoid carcinoma. Report of a case.

The present article reports a case of multiple endocrine neoplasia (MEN) syndrome, type IIb, including the following components: pheochromocytoma, medullary thyroid carcinoma, hyperplastic corneal nerves and multiple mucosal oral and ocular neurofibromas. The patients, a 35-year-old male also exhibited a series of other pertinent findings, i.e. thickened eyelids, marfanoid habitus and widened mandibular canal and mental foramina. In the discussion the clinical and histopathologic characteristics of the present case are compared with similar findings in other previously published cases. The multiple oral mucosal neurofibromas are described clinically and histopathologically and are stated as a pathognomonic early sign of the syndrome.

Adult↗

Neurofibroma in the articular disc of the temporomandibular joint: a case report.

In classical Von Recklinghausen neurofibromatosis (Type I), skeletal defects occur as a result of abnormalities of derivatives of the neuroectoderm and mesoderm. Temporomandibular joint (TMJ) disorders caused by neurofibroma in the joint capsule or disc have not been reported previously in the English language literature. A case of neurofibroma in the TMJ articular disc in a 29-year-old woman with neurofibromatosis Type I is presented.

Adult↗

Subarachnoid hemorrhage from multiple neurofibromas of the cauda equina: case report.

The authors report a case of spinal subarachnoid hemorrhage caused by neurofibromas of the cauda equina. An examination of the literature revealing 13 similar cases and an analysis of this case showing three neurofibromas of the cauda equina prompted an hypothesis emphasizing the origin of bleeding and the difficulties associated with a correct diagnosis.

Cauda Equina↗

Basement membrane proteins, interstitial collagens, and fibronectin in neurofibroma.

The distribution and nature of extracellular matrix proteins in neurofibroma tissue was studied by indirect immunofluorescence, immunoelectron microscopy, immunoblotting, and rotary shadowing. The most striking feature was an extensive network of basement membranes localized mainly around Schwann cells and small blood vessels. The major components, collagen IV, laminin, and nidogen, were mainly deposited in the lamina densa. Some laminin and nidogen could be extracted with 0.5 M NaCl and were shown by electrophoresis to have the characteristic chain and fragment patterns described previously for these proteins isolated from the mouse Engelbreth-Holm-Swarm (EHS) sarcoma. Fragments of collagen IV and collagen VI were solubilized by limited proteolytic digestion and identified after rotary shadowing. The more remote interstitial regions of the tumor contained cross-striated collagen fibrils which were composed of collagen III (diameter, 20-30 nm) or collagen I (diameter, 40-50 nm). Collagen fibrils thicker than 80 nm were not found. The interstitial regions also contained collagen VI as a fine filamentous network near cells and between collagen fibrils. Deposits of fibronectin were rather small and showed a scattered distribution. The data indicate that Schwann cells contribute considerably to matrix production in neurofibroma which may therefore be a suitable model for studying basement membranes of neuroectodermal origin.

Basement Membrane↗

Localized multiple neurofibromas.

Two cases of localized multiple neurofibromas are reported. The patients had fairly large, closely grouped neurofibromas limited to a circumscribed part of the body, a very different clinical feature from segmental neurofibromatosis, but with otherwise had typical histopathological features. Possible aetiology is discussed.

Aged↗

Malignant neurofibroma with glandular differentiation (glandular schwannoma).

A case of malignant shwannoma is reported with unusual elements in an 89-year-old female. A large mass was located in the subcutaneous tissue of the right lateral chest wall and measured 5 cm in the greatest diameter. Histologically the tumor was composed of neurofibroma and malignant schwannoma with glandular differentiation. Neurofibroma characterized by numerous hyaline neural nodules was located in the peripheral portion of the tumor, whereas malignant schwannoma occupied a large part of the central portion of the tumor. The glandular elements observed in some areas of malignant schwannoma consisted of cuboidal and columnar shaped cells and were arranged in tubular or tubulo-medullary fashion in which rosettes or pseudorosettes were found. Mucicarminophilic material was observed, both in the cytoplasm and in the lumen. Seven reported cases of peripheral nerve tumor with glandular differentiation are reviewed briefly.

Aged↗

Disturbed voiding associated with von Recklinghausen's neurofibroma.

Abstract The incidence of von Recklinghausen's disease is most frequent among neurocutaneous syndrome. It is an intractable neurological disease. About half of the disease is caused by an autosomal dominant inheritance and another half by mutation. It is characterized by neurofibroma which arises on various parts of the body and gradually increases with age. We recently encountered a case where a growth of neurofibroma within the foreskin had disturbed voiding.

Humans↗

Malignant neurofibroma of the urinary bladder.

We report a case of a large malignant neurofibroma of the urinary bladder occurring in a 33-year-old patient with Recklinghausen's neurofibromatosis. Urologic manifestations of neurofibromatosis are infrequent; a neurofibroma of the bladder with malignant degeneration is an extreme rarity. To date only 3 cases have been described in the literature.

Adult↗

Magnetic resonance imaging artifact following acoustic neurofibroma surgery--case report.

Metallic artifacts in magnetic resonance (MR) imaging occur mostly in patients who have received an implant at surgery. Similar artifacts are now increasingly recognized in patients in whom high-speed drills have been used. A 15-year-old male with neurofibromatosis 2 had undergone excision of acoustic neurofibroma on the left 1.5 years prior to the present admission. MR imaging to evaluate the acoustic neurofibroma on the right showed a metallic artifact at the site of the previous surgery. Computed tomography did not show any evidence of metal debris. The artifact was probably caused by metallic dust or debris from a high-speed drill during the first surgery. We suggest that care should be taken to prevent deposition of such debris in the operative field to prevent this complication.

Adolescent↗

[Uptake of 201TlCl and 99mTc-tetrofosmin in neurofibroma: a case report].

A 34-year-old man with neurofibromatosis type 1 (von Recklinghausen's disease) was examined by 201TlCl and 99mTc-tetrofosmin scintigraphies. Hypervascularity was observed in the largest tumor of the right thigh. The tumor was also depicted on both scintigrams. Tumorectomy was performed and the pathologic examination revealed it to be a neurofibroma measuring 10 x 7 x 4 cm in size. These findings suggested that 201TlCl and 99mTc-tetrofosmin scintigraphies generally were unable to distinguish malignant from benign neurofibromas with certainty.

Adult↗

[Large hairy pigmented spots in neurofibromatosis type 1: an atypical form of neurofibromas].

INTRODUCTION: Large hairy pigmented spots have been observed in patients with neurofibromatosis type 1. In this study we tried to determine the nature and the frequency of these hairy pigmented spots in neurofibromatosis type 1. PATIENTS AND METHODS: In patients with neurofibromatosis type 1, hairy pigmented spots with a diameter more than 3 cm were systematically notified. Realisation of the biopsy of the spot was proposed to the patient. RESULTS: Among 614 patients with neurofibromatosis type 1, seven (1.1 p. 100) had a large hairy pigmented spot. Biopsy was realized in six cases. In five cases, diagnosis was superficial and plexiform neurofibroma, the 6(th) case was a Becker's nevus. CONCLUSION: Large hairy pigmented spot is a rare aspect of superficial and plexiform neurofibroma during neurofibromatosis type 1. A biopsy may be useful if it is necessary for the disorder diagnosis.

Adolescent↗

[Solitary giant retroperitoneal neurofibroma].

Retroperitoneal nerve sheath tumors (RNST), which include benign and malignant schwannomas and neurofibromas, are rare. A 71-year-old woman was complaining of flank pain. Ultrasonography and computed tomography revealed a retroperitoneal tumor measuring 22 x 15. It was successfully removed and extirpated through a midline laparotomy incision. It weighed 7 kgs. Histochemical and immunohistochemical staining of the tumor are useful for the diagnosis of solitary neurofibroma. After a two year follow-up, the patient is in good health, asymptomatic and without evidence of local recurrence.

Aged↗

[Bile duct obstruction caused by neurofibroma in a patient with Recklinghausen's disease].

INTRODUCTION: Neurofibromatosis type-I (von Recklinghausen's disease) is characterised by multiple cutan neurofibromas, cafe-au-lait spots, bone abnormalities and tumours of central and peripheral nerves. Gastrointestinal involvement occurs in 25 percent of all cases. CASE REPORT: The authors report a case of a 53-year-old man presenting with rare hepatobiliary complication. He complained of abdominal pain and he looked jaundiced. The abdominal ultrasound revealed cholestasis confirmed by the laboratory results. The endoscopic retrograd cholangiography showed nearly total obstruction in the middle part of common bile duct. Subsequently laparotomy and choledochoenterostomy was performed. Plexiform neurofibroma was found in the wall of common bile duct and several gastrointestinal stromal tumour seedings were identified on the serosal surface of the small intestine. Post surgery he remained symptom free and showed no sign of jaundice. CONCLUSION: The authors would like to draw attention to this extremely rare case, since only two similar cases appeared in the literature.

Cholangiopancreatography, Endoscopic Retrograde↗