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PubMed2000

Perineuroma. A frequently unrecognized entity with emphasis on a plexiform variant.

AIMS: The present series describes six cases of perineurioma, a rare and frequently unrecognized entity, including one case with an unusual plexiform growth pattern. METHODS: Retrospective clinicopathologic study of six perineuriomas. RESULTS: All lesions occurred on the upper extremities or shoulders of adults, five in females. Histologically, all six cases of perineurioma had been initially unrecognized or misdiagnosed as dermatofibroma, fibroma of tendon sheath, neurofibroma, schwannoma, or naevus, respectively. Scanning magnification revealed well circumscribed, dermal to subcutaneous lesions without capsule formation. Besides characteristic onion bulbs", i.e. concentric whorls of epithelioid to spindle-shaped cells, there was great variation of histomorphologic features: single nodules or plexiform architecture; a few to many concentric whorls; five to several dozens of cell layers in concentric whorls; high to low cellularity; round/oval to spindle-shaped/wavy cells/nuclei; delicate to prominent collagen; variable mucin, sclerosis, and/or intralesional clefts. Immunohistochemically, all lesions were consistently positive for EMA, ultrastructurally (1 case) with evidence of perineurial differentiation such as slender and elongated, bipolar cytoplasmic processes with discontinuous basal lamina, prominent pinocytosis and desmosome-like junctions. CONCLUSION: Our series documents that cutaneous and subcutaneous perineurioma is frequently unrecognized or misinterpreted and may occasionally show a plexiform growth pattern. The differential diagnosis of plexiform variants includes a variety of plexiform lesions such as naevi, neurofibroma, schwannoma, etc. Historically, similar plexiform lesions seem to have been published as nerve sheath myxoma/neurothekeoma, Pacinian neurofibroma or perineurial myxoma. This terminology is imprecise and confusing and, thus, should be avoided in favour of the correct term of perineurioma.

Adult↗
PubMed2002

[von Recklinghausen's disease and pregnancy].

Neurofibrosis or the Von Recklinghausen disease constitutes a genetically transmitted disease that appears in many parts of the body as well as many symptoms. It is inherited from the autosomatic dominant type (gene NFI on chromosome 17) and is characterized by brownish blemishes of the skin (cafe au lait), multiple neurofibromas (small dermal or subcutaneous lumps), symptoms of the peripheral and central nervous systems as well as disorders of the eyes, skeletal system, gastric system and vascular system (aneurysms of the aorta, carotid and renal arteries). We describe the case study of a 25 year old female, second pregnancy with known history of the above mentioned disease. She delivered on the 39th week of pregnancy (male neonate weighing 3000 gr.), with no problems. On the 22nd week of her pregnancy she presented with a large distension of the anterior surface of the neck in the area of the thyroid that gradually increased in size. Differential Diagnosis includes nodular goiter and neurofibroma. One month postpartum the morphoma was surgically. Neurofibrosis during pregnancy can cause many complications such as IUGR, hypertensive disease, spontaneous abortions, oligohydraminios and neurofibroma development. This case study is being discussed in international bibliography.

Adult↗
PubMed2002

Treatment of relevant nerve roots involved in nerve sheath tumors: removal or preservation?

OBJECTIVE: Surgery for the treatment of patients with spinal nerve sheath tumors can require complete resection of the nerve roots involved in the tumor. The purpose of the present study is to analyze the risks of resection of eloquent roots as compared with the risks of incomplete tumor removal. METHODS: The pertinent literature on spinal nerve sheath tumors was reviewed. A single-institution series of 26 patients who underwent operations for 27 spinal schwannomas or neurofibromas, which were removed together with functionally relevant nerve roots (C5-C8 or L3-S1), was studied. RESULTS: Worsening of preoperative radicular motor function was observed at follow-up in 4 (14.8%) of the 27 divided nerve roots, but the motor deficit was permanent and disabling in only 2 cases (7.4%). In the four patients who experienced worsened radicular motor function, the roots were cervical, and histological analysis revealed that the tumor was a schwannoma. Three of these patients were neurologically negative before surgery. Of the two patients with severe radicular weakness, the location of the tumor was extradural and extraradicular in one patient, who had normal preoperative root function, and the tumor was intraextradural in the other patient, who had a preoperative root deficit. CONCLUSION: After resection of a single eloquent nerve root involved in a nerve sheath tumor, the incidence of radicular dysfunction is low but severe weakness is possible. The main risk factors seem to be the pathological pattern (schwannoma versus neurofibroma) of tumor, the preoperative status (with versus without deficit) of the root, and, for extradural nerve sheath tumors, the location (cervical and extraradicular versus lumbosacral and intraradicular) of growth. Deafferentation pain does not occur. Unlike schwannomas with neurofibromatosis Type 2 and neurofibromas, the radicality of removal seems to be the main factor with regard to the recurrence of solitary schwannomas, although recurrent tumors often appear later in follow-up.

Adolescent↗
PubMedDate not supplied

Neurofibromatosis type 1: a clinicopathological study of the orofacial manifestations in 6 pediatric patients.

Neurofibromatosis type 1 (NF1) is a relatively frequent mucocutaneous syndrome, which is transmitted as an autosomal dominant trait or which may represent neomutation. It is characterized by a variety of clinical manifestations, including multiple neurofibromas that are associated with a high risk of sarcomatous transformation. The aim of this report was to elucidate the orofacial manifestations observed in 6 pediatric patients (between 4 and 15 years of age) diagnosed with NF1. Physical, clinical, radiological, histological, and immunohistochemical studies were performed. Orofacial lesions were observed in all studied patients, located either in the soft tissues (4 cases) or centrally in the jaws (2 cases). All cases showed facial asymmetry, one of them exhibiting marked facial hemihypertrophy. All cases with soft tissue involvement were plexiform neurofibromas, while the intraosseous cases were diagnosed as solitary neurofibromas. Knowledge of the variability of presentation of orofacial soft tissue and bone manifestations of NF1 in children is necessary for prompt diagnosis.

Adolescent↗
PubMed2002

[Tumors of peripheral nerves of extremities and the brachial plexus and their surgical treatment].

BACKGROUND: The author presents the results of 32 operations in 30 patients to whom in the course of 11 years, from 1990-2001 by the microtechnique 32 tumours of peripheral nerves of the extremities and the brachial plexus were removed. PATIENTS AND METHODS: In 26 patients 28 tumours of the peripheral nerves of the extremities were removed and in 4 patients 4 tumours of the brachial plexus were removed. Three of the tumours of the brachial plexus spread intraspinally. 31 tumours of the nervous sheaths included 19 schwannomas and 12 neurofibromas. Of 12 neurofibromas six were found in four patients with Recklinghausen's disease (VRD). One patient had a tumour of non-neural elements--a lipoma. The authors did not encounter malignant tumours of nervous sheaths, benign or metastatic malignant ones which compressed or invaded the nerve or plexus. The results were evaluated according to Donner's classification of motor and sensitive functions. RESULTS: Motor functions improved but remained unaltered in 17 (89%) patients with schwannomas and in 5 (83.3%) patients with pain in the area of the affected nerve either complete or partial mitigation of symptoms occurred. In neurofibromas in 3 (50%) patients motor functions improved or remained unaltered and all patients had a partial or complete regression of painful syndromes. In 4 patients with VRD 6 tumours of the peripheral nerves of the extremities were removed, in all the motor functions improved or remained unalterted and in all a partial or complete regression of pain syndromes was recorded. The results were more favourable in smaller, more distant tumours of the nerve sheaths. CONCLUSION: Patients should be operated in departments concerned with problems of peripheral nerves.

Brachial Plexus↗
PubMed2003

Our experience with surgical treatment of the tumours of peripheral nerves in extremities and brachial plexus.

OUTLINE: The paper presents the results of 33 microsurgical removal of 33 tumours of brachial plexus and of peripheral nerves in extremities performed on 31 patients during the period of 11 years, from 1990 to 2001. PATIENT GROUP AND METHODS: The patient group included 26 patients treated for removal of 28 tumours of peripheral nerves in extremities and 5 patients treated for removal of 5 tumours of brachial plexus. Three of these brachial plexus tumours showed intraspinal spread. 32 tumours of neural sheath included 20 schwannomas and 12 neurofibromas. 6 of these 12 neurofibromas were observed in 4 patients suffering from Reklinghausen disease (VRD). One patient had a tumour of non-neural elements--lipoma. We did not encounter any malign tumours of neural sheaths or other neural sheath-derived tumours (benign or metastatic malign ones) that would compress or invade the nerves or plexus. The results were evaluated according to Donner classification of motor and sensory functions. RESULTS: Motor functions improved or remained unchanged in 18 (90%) patients with schwannoma. 5 patients (83.3%) with pain in the distribution of the affected nerve reported complete or partial improvement of the symptoms. Regarding neurofibroma patients, 3 exhibited either an improvement or unchanged motor functions, and all of them reported partial or complete retreat of pain symptoms. 4 patients with VRD were subjected to the removal of 6 tumours of peripheral nerves in extremities; all of them exhibited improved or stabilised motor functions and partial or complete retreat of pain symptoms. The outcome of treatments was generally better in smaller tumours of neural sheaths with more distal localisation. CONCLUSION: Patients should be treated in the early stage of tumour development when the size remains smaller and neurological deficits are absent.

Adult↗
PubMedDate not supplied

[Tumors of nerve sheaths of the peripheral nerves].

Objectives of this paper are the analysis of the confidence in the complementary investigation for the differential diagnostic between schwannoma and neurofibroma, and the retrospective evaluation of the therapy based on the consequent follow-up. The study has been conducted on 36 patients, most of them observed by University Clinic of Navarra (Pamplona), and the others by N. Picardi, all with preoperative diagnosis of schwannoma and neurofibroma, localized in 13 cases in peripheral nerves. Diagnostic iter, pathologic definition, therapy and evolution has been evaluated for all of them. In conclusion we feel that this pathology has to be suspected every time we find a tumor with neurologic symptomatology and that surgical indication of exeresis is the most correct in the majority of cases; moreover imaging investigations is rather useful, but if any doubt occurs we must proceed to biopsy or directly to exeresis of the tumor. Our experience shows that schwannoma, thanks to its anatomic patterns, can be treated less radically toward the nerve continuity than neurofibroma, and that the technique of nerve graft could be a useful alternative in this kind of surgery.

Adolescent↗
PubMedDate not supplied

Laparoscopic-assisted resection of a large retroperitoneal tumor.

BACKGROUND: Retroperitoneal tumors have traditionally been excised using standard open techniques. When preparing the manuscript we knew of only 1 report, in Japanese, describing the excision of 2 retroperitoneal neurofibromas using a minimally invasive technique. The feasibility of the technique was tested in the removal of a large retroperitoneal neurofibroma. METHODS: Laparoscopic-assisted resection of a large retroperitoneal tumor was offered to a 37-year-old female with a 12 x 10 x 9-cm neurofibroma located inferior to the left kidney. The patient was placed on a beanbag in a right lateral decubitus position. Three 5-mm ports were used, and the tumor was mobilized followed by placement of a hand port for completion of dissection and removal of the tumor. RESULTS: The tumor was successfully removed in about 3 hours, and blood loss was <100 cc. The patient developed urinary and bowel dysfunction probably secondary to the effect of the dissection and removal of the tumor on the nearby sacral plexus. CONCLUSIONS: We believe that laparoscopy is a feasible and appropriate technique available to general and laparoscopic surgeons in the management of retroperitoneal tumors, providing excellent visualization and adequate access for proper dissection through small incisions.

Adult↗
PubMed2004

[Rare cases of neurofibroina in the head and neck].

Four cases of neurofibroma rare localized in parapharyngeal space and throat, in external ear and larynx are described. Three of them were isolated tumors and in one case--tumors in external ears developed in course of general Recklinghausen disease. Two cases of neurofibroma in parapharyngeal space had different clinical, CT and microscopic picture. In one case tumor protruded the throat obturating its oral part with osseous elements in its microscopic structure which caused characteristic CT picture. This one was excised through median mandibulotomy with good anatomical and functional result. The second case of parapharyngeal neurofibroma adherent to the superior cervical vertebra and only slightly dislocated the postero-lateral wall of the throat was excised through external cervical approach.

Adult↗
PubMed2006

[Diagnosis and management of facial nerve neuromas].

OBJECTIVE: To provide the experience for early diagnosis and management of facial nerve neuromas, and to discuss the clinic and imaging feature of facial nerve schwannoma and facial nerve fibroma in 22 cases. METHODS: Twenty cases facial nerve schwannoma and two cases of facial nerve neurofibroma were diagnosed and reviewed retrospectively. Surgical removal were performed through the middle cranial fossa in 2 cases, through intratemporal approach in 8 cases, through intraparotid approach in 2 cases, and combined intra-temporal with out-temporal approaches in 10 cases. Seventeen cases underwent facial nerve graft for repairing a facial nerve defect. Great auricular nerve was used in 3 cases with intratemporal approach and 1 case with intratemporal combined intraparotid approach. Sural nerve graft was used in 5 cases with intratemporal approach and 8 cases with intra-temporal combined intraparotid approach. Two cases were employed two-stage facial muscle flap-plasty. RESULTS: Facial nerve neuromas were totally removed in 21 cases and subtotal neuroma removed in 1 case. In these cases, 20 patients were no recurrence and 1 patient was lost follow-up. One patient with subtotal neuroma removal received Gamma Knife treatment before and after surgery, and this case was no recurrence. The CT imaging of the temporal bone showed that schwannoma was separated "white mass" with smooth margin along the region of facial nerve without intact canal. But neurofibroma locate in enlarge fallopian with intact canal. Magnetic resonance imaging had the advantage of evaluating all segments of the facial nerve and showed continuity of intratemporal and intraparotid mass with the facial nerve. Pathological results indicated that 20 cases were diagnosed as facial nerve schwannoma and 2 cases were neurofibroma. CONCLUSIONS: Although tumors originating from the facial nerve are extremely rare, it is possible to make early diagnosis through finding clinical feature and imaging methods. Generally, systematic surgical approach for tumor removal and facial nerve reconstruction should be considered in the cases with facial neurinoma.

Adolescent↗
PubMedDate not supplied

[Biliary obstruction in von Recklinghausen disease].

The EVR is an uncommon autosomic dominant hereditary pathology that typically presents neurofibromas in the course of the spinal, cranial and neurovegetative nerves. Occasionally, neurofibromas can be found in the gastrointestinal tract. In this setting, the most frequent locations are jejunum, stomach and ileum. Seldom, they are in duodenum where could become ulcerated determining bleeding and severe pain simulating an acute pancreatitis. There are sympathetic and parasympathetic nerves in the minor epiploon arising from the splanchnic and vagus respectively. It results in a thick network around the extrahepatic biliary system that could be the neurofibromas origin; when they become bigger biliary obstruction can results needing chirurgical treatment. Previously, it is important to discard another probable causes of biliary obstruction (lithiasis, sclerosant cholangitis, biliary or pancreatic neoplasms) with all available proceedings (echosonography, CPRE, TAC, etc).

Adult↗
PubMed1989

Distribution of merosin, a laminin-related tissue-specific basement membrane protein, in human Schwann cell neoplasms.

The expression of merosin and laminin was studied in human schwannomas, plexiform neurofibromas, and malignant schwannomas immunohistochemically using monoclonal antibodies. Merosin is a unique novel tissue-specific basement membrane protein found in basement membranes of trophoblast, striated muscle, and Schwann cells. Merosin is related to laminin, another basement membrane protein with which it shows a homologous C terminal domain. In schwannomas, merosin was only found in areas where tumor cells were in contact with stromal or vascular tissue. Laminin, however, was present in all tumor cell basement membranes. In plexiform neurofibromas large amounts of both merosin and laminin were seen in Schwann cell basement membranes. Very little of either protein was found in malignant schwannomas. Thus merosin is present almost exclusively in highly differentiated Schwann cell neoplasms, and its distribution is more restricted than that of laminin. The expression of merosin in plexiform neurofibromas and in the schwannoma cells juxtaposed to the mesenchymal cells suggests that this protein is induced epigenetically in well-differentiated cells in contact with connective tissue or vascular components.

Adult↗
PubMed1989

[Expression of nerve growth factor receptor in human benign peripheral nerve sheath tumor].

We examined in vivo and in vitro expression of nerve growth factor (NGF) receptors in 13 dermal and 9 plexiform neurofibromas, 28 schwannomas, and 4 traumatic neuromas with an immunohistochemical method using a monoclonal antihuman NGF receptor antibody (ME20-4) and anti S-100 beta protein antibody. Immunoreactivity for NGF receptor and S-100 beta protein was universally observed on the principal cells of both neurofibroma and schwannoma in vivo. Moreover, we examined the NGF receptor and S-100 beta protein immunoreactivity in the culture system of the neurofibroma and schwannoma with an immunofluorescent double staining method. The principal cells of both tumors were positively stained by both ME20-4 and anti S-100 beta protein antibodies. These cells also express the ability for 125I-NGF binding, which was examined with an autoradiographic technique. These results suggest that NGF receptors are universally expressed on the S-100 beta protein positive Schwann-like cells composing of these tumors both in vivo and in vitro. In traumatic neuroma, however, a positive staining of NGF receptor was more strongly observed in the perineurium rather than in the endoneurial cells.

Adolescent↗
PubMed1984

[Benign tumors of the peripheral nerve sheaths].

Benign tumors from sheaths of peripheral nerves (25 neurolemmomas and 6 neurofibromas) were studied. The ultrastructural data presented attest to the principal differences between these tumors and the possibility of their differential diagnosis. The typical signs of tumor cells of neurilemmoma include numerous complicatedly interwoven processes not infrequently forming " pseudomesaxonal " structures, and the presence of permanent basal membrane. These signs indicate the histogenetic relationship of neurilemmoma with cells of the Schann sheath of the peripheral nerve ( lemmocytes ). Neurofibroma tumor cells were characterized by the presence of bipolar thin, long non-interwoven cytoplasmic processes with inconstant basal membrane, desmosome-like contacts between the processes, and pinocytic vesicles in the cytoplasm. The revealed ultrastructural signs indicate the histogenetic relationship of neurofibroma with cells of the perineurium of peripheral nerves.

Adolescent↗
PubMed1994

[A case of neurofibromatosis with occlusion of multiple cerebral artery, moyamoya phenomenon and scoliosis].

Cases of cerebrovascular occlusive lesion with neurofibromatosis have rarely been reported. We report here, the case of a 57-year-old woman who twice had sudden onset of brain hemorrhage. She had a family history of neurofibromatosis. Her elder daughter and her niece had a diagnosis of neurofibromatosis and examination showed café au lait spots and neurofibroma over the body, accompanied with scoliosis. CT scans revealed subependymal hemorrhage at the first onset of cerebral bleeding and secondly showed a high-density mass at the left basal ganglia. SPECT(99mTC-HMPAO) showed decreased activity in the left frontal and temporal lobe. Angiogram revealed multiple occlusive lesions of the cerebral arteries, including occlusions of the bilateral anterior cerebral artery and the right middle cerebral artery at the proximal portion and stenosis of the left posterior artery at the proximal portion. Abnormal vascular networks (so called Moyamoya phenomenon) at the base of the brain were also seen bilaterally. Seizinger and others have found a genetic locus of this disease in the use of genetic engineering, and Riccardi showed that mast cell is related to the tumorous growth of neurofibroma and suggested a possibility of medical treatment for growing neurofibroma by stabilizing mast cell function with ketotifen. We anticipate the treatment for this disease will be established in recent years.

Cerebral Angiography↗
PubMed1993

Laryngeal involvement in neurofibromatosis.

Neurofibromas of the larynx are an uncommon component of neurofibromatosis, but should be considered in the differential diagnosis of patients with a submucosal supraglottic mass. Complete surgical excision is the treatment of choice; however, incomplete excision may be preferable to aggressive debilitating surgery. Plexiform neurofibroma differs from non-plexiform neurofibroma in that it is poorly circumscribed and highly infiltrative. Tracheostomy may be necessary. Sarcomatous degeneration is reported and carries a poor prognosis.

Adult↗
PubMed1997

CD44 expression is aberrant in benign Schwann cell tumors possessing mutations in the neurofibromatosis type 2, but not type 1, gene.

Atypical expression of CD44 splice variants has been implicated in the progression of numerous tumors. This abnormal CD44 expression is presumed to result from gene alterations that cause tumorigenic transformation. Two tumor types that have been linked to specific gene alterations are schwannomas, which have mutations in the neurofibromatosis (NF) type 2 (NF2) gene, and neurofibromas, which characteristically possess NF type 1 (NF1) gene mutations. We examined CD44 expression in normal sciatic nerves, in schwannomas with confirmed NF2 mutations, and in neurofibromas and malignant peripheral nerve sheath tumor tissue and cell lines from NF1 patients. Compared to normal nerves, schwannomas express higher total levels of CD44 and additional splice variants, whereas CD44 expression in neurofibromas is unaltered. Malignant peripheral nerve sheath tumor tissue and cell lines express the CD44v6 epitope, which is not expressed by normal Schwann cells or by other Schwann cell tumors. These data indicate that altered CD44 expression correlates strictly with mutations in the NF2 but not NF1 gene and suggest that CD44v6 might be a marker for the malignant transformation of Schwann cells.

Alternative Splicing↗
PubMed1989

Nerve sheath myxoma of digital nerve.

A case of a dermal nerve sheath myxoma arising in a digital nerve is reported. Similar tumors and its variants have been termed neurothekeoma, pacinian neurofibroma, bizarre cutaneous neurofibroma, and plexiform neurofibroma. The perineural sheath or the Schwann cell have been presumed to be the cell of origin by several investigators. The positive reaction with antibody to S-100 would appear to favor the Schwann cell as the progenitor of this tumor.

Adult↗