A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)
A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
A protein found most abundantly in the nervous system. Defects or deficiencies in this protein are associated with NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome. Mutations in the gene (GENE, NEUROFIBROMATOSIS 1) affect two known functions: regulation of ras-GTPase and tumor suppression.
A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)
Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)
Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.
Neuroglial cells of the peripheral nervous system which form the insulating myelin sheaths of peripheral axons.
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)
A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed)
X-ray visualization of the spinal cord following injection of contrast medium into the spinal arachnoid space.
Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen.
Tumors or cancer of the MANDIBLE.
'Gingival neoplasms' are abnormal, uncontrolled growths of tissue originating from the gingiva, which can be benign (non-cancerous) or malignant (cancerous), often manifesting as swellings, ulcerations, or masses within the oral cavity.
The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendinous galea aponeurotica; loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL).
Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.
A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.
A family of highly acidic calcium-binding proteins found in large concentration in the brain and believed to be glial in origin. They are also found in other organs in the body. They have in common the EF-hand motif (EF HAND MOTIFS) found on a number of calcium binding proteins. The name of this family derives from the property of being soluble in a 100% saturated ammonium sulfate solution.
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.

Color Doppler sonography of focal lesions of the skin and subcutaneous tissue. (1/182)

We evaluated with color Doppler sonography 71 visible and palpable nodules of the skin and subcutaneous tissue from 51 patients. The nodules were classified as avascular (type I), hypovascular with a single vascular pole (type II), hypervascular with multiple peripheral poles (type III), and hypervascular with internal vessels (type IV). Of the 32 malignant nodules, 9% showed a type I pattern, 50% had a type III pattern, and 41% had a type IV pattern; of the 39 benign nodules, 86% showed a type I pattern and 14% had a type II pattern. The sensitivity and specificity of hypervascularity in malignant lesions were 90% and 100%, respectively, whereas the sensitivity and specificity of hypovascularity in benign lesions were 100% and 90%, respectively. The authors conclude that color Doppler sonography is able to increase the specificity of ultrasonography in the evaluation of nodular lesions of the skin.  (+info)

Extreme lateral transcondylar approach to the skull base. (2/182)

In this study, the authors present their experience of using extreme later transcondylar approach (ELTC) for treating 7 patients with lesions in the anterolateral foramen magnum, upper cervical spine and cerebellopontine angle reaching upto jugular foramen. The tumours included meningiomas, neurofibromas (2 cases each), chondrosarcoma, epidermoid and aneurysmal bone cyst (one case each). The approach was used alone, in combination with retrolabyrinthine presigmoid approach in a patient with lower cranial nerve neurofibroma extending extracranially through the jugular foramen, or in combination with partial C1-C3 laminectomy in two patients with meningiomas situated anterolateral to the cord from the foramen magnum to C3. In two patients with extradural vertebral artery (VA) entrapment by a chondrosarcoma and aneurysmal bone cyst respectively, the vertebral artery was ligated distal to the tumour. The tumours were totally excised in five cases and partially in two. There was no preoperative mortality. The major complications included cerebrospinal fluid leak from the wound (3 cases) and increase in lower cranial nerve paresis (2 cases). At follow up, ranging from 6 months to 2 years, 5 patients showed no tumour recurrence. There was improvement in neurological status. One patient, with a partially excised aneurysmal bone cyst, showed no added deficits or increase in the tumour size. However, there was a massive regrowth in the patient with chondrosarcoma after 6 months. This technique provided a wide surgical exposure with direct visualization of the tumour-anterior cord interface, early proximal control of the VA and preservation of lower cranial nerves.  (+info)

Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas. (3/182)

The INK4A gene, a candidate tumor suppressor gene located on chromosome 9p21, encodes two protein products, p16 and p19(ARF). p16 is a negative cell cycle regulator capable of arresting cells in the G1 phase by inhibiting cyclin-dependent kinases 4 (Cdk4) and 6 (Cdk6), thus preventing pRB phosphorylation. p19(ARF) prevents Mdm2-mediated neutralization of p53. Loss of INK4A is a frequent molecular alteration involved in the genesis of several neoplasms, including tumors of neuroectodermal origin. This study investigated the frequency of INK4A gene alterations in a series of malignant peripheral nerve sheath tumors (MPNSTs) and neurofibromas (NFs). INK4A gene and the p19(ARF)-specific exon 1beta were studied in 11 MPNST samples from 8 patients and 7 neurofibromas. Presence of INK4A deletions was assessed by Southern blotting hybridization and by a multiplex polymerase chain reaction (mPCR). INK4A point mutations were examined by single-strand conformation polymorphism (SSCP) and sequencing. The p16 promoter methylation status was determined by PCR amplification of bisulfite-treated DNA. Homozygous deletions of exon 2, thus affecting both p16 and p19(ARF), were identified in MPNSTs from 4 of 8 patients. Deletions, mutations, or silencing by methylation were not identified in the neurofibromas analyzed. Based on our results, we conclude that INK4A deletions are frequent events in MPNSTs and may participate in tumor progression. Silencing of p16 by methylation, which occurs often in several tumor types, is uncommon in MPNSTs.  (+info)

Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation. (4/182)

Patients with neurofibromatosis 1 (NF1) are predisposed to develop multiple neurofibromas (NFs) and are at risk for transformation of NFs to malignant peripheral nerve sheath tumors (MPNSTs). Little is known, however, about the biological events involved in the malignant transformation of NFs. We examined the CDKN2A/p16 gene and p16 protein in NFs and MPNSTs from patients with NF1. On immunohistochemical analysis, all NFs expressed p16 protein. The MPNSTs, however, were essentially immunonegative for p16, with striking transitions in cases that contained both benign and malignant elements. None of the benign tumors had CDKN2A/p16 deletions, whereas three of six MPNSTs appeared to have homozygous CDKN2A/p16 deletions. Methylation analysis and mutation analysis of CDKN2A/p16 in MPNSTs did not reveal any abnormalities. These results show that malignant transformation of NF is associated with loss of p16 expression, which is often secondary to homozygous deletion of the CDKN2A/p16 gene. The findings suggest that CDKN2A/p16 inactivation occurs during the malignant transformation of NFs in NF1 patients and raises the possibility that p16 immunohistochemistry may provide ancillary information in the distinction of NF from MPNST.  (+info)

Expression of p27(kip) and other cell cycle regulators in malignant peripheral nerve sheath tumors and neurofibromas: the emerging role of p27(kip) in malignant transformation of neurofibromas. (5/182)

There is little information regarding the status of cell cycle regulators in malignant peripheral nerve sheath tumors (MPNSTs) and neurofibromas (NFs). In this study, we investigated patterns of expression of p53 and pRB, cyclin-dependent kinase inhibitors (CKIs) p21 and p27, as well as cyclins D1 and E, in a cohort of 35 well-characterized MPNSTs and 16 NFs. These phenotypes were correlated with proliferative index, as assessed by Ki-67, as well as clinicopathological parameters of poor outcome. p53 nuclear overexpression was found in 10 of 35 (29%) MPNSTs, and it was lacking in NFs (P = 0.02). There were no differences in the patterns of expression of pRB, cyclin D1, and p21 between MPNSTs and NFs. However, p27 nuclear expression was present in most NFs, but it was absent in the majority of MPNSTs, which displayed cytoplasmic staining (P < 0.001). Nuclear cyclin E expression was more pronounced in MPNSTs than in NFs. We observed inverse patterns of expression for nuclear p27 and nuclear cyclin E expression. The staining profiles of cytoplasmic p27 and nuclear cyclin E expression were found to be statistically associated (P = 0.01). High Ki-67 expression was found in 20 of 34 (59%) MPNSTs but was absent in NFs (P < 0.001). Furthermore, detection of cytoplasmic p27 expression was found to be a prognostic factor for poor survival in MPNSTs (P = 0.03, relative risk = 2.4).  (+info)

Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. (6/182)

OBJECTIVES: The ability of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) to detect malignant change in plexiform neurofibromas from patients with neurofibromatosis 1 (NF1) was evaluated. METHODS: Eighteen NF1 patients who presented with pain, increase in size, or neurological deficit associated with a plexiform neurofibroma were assessed. Magnetic resonance imaging determined the site and extent of the lesion. Qualitative(18)FDG PET was performed and the standard uptake value (SUV) measured the regional glucose metabolism. Histological confirmation of the diagnosis was obtained in 10 patients. RESULTS: Twenty three plexiform neurofibromas were detected in 18 patients. Seven malignant peripheral nerve sheath tumours, four high grade and three low grade tumours, occurred in five patients. In one patient the clinical and radiological characteristics of the tumour suggested malignancy, but histology was inconclusive. Fifteen benign plexiform neurofibromas were identified in 12 patients and these findings were confirmed histologically in five lesions from four patients. Ten plexiform neurofibromas occurring in eight patients were considered benign on(18)FDG PET and the patients did not undergo surgery. They remained stable or their symptoms improved on clinical follow up (median 9 months). The results of qualitative (18)FDG PET were interpreted as indicating that 13 plexiform neurofibromas were benign and 10 were malignant. No malignant tumours were classified as benign, but two benign tumours were reported as malignant. The SUV was calculated for 20 tumours and was significantly higher in five malignant tumours 5.4 (SD 2.4), than in 15 benign tumours 1.54 (SD 0.7), p=0.002. There was an overlap between benign and malignant tumours in the SUV range 2.7-3.3. CONCLUSIONS: (18)FDG PET is helpful in determining malignant change in plexiform neurofibromas in NF1. Increased separation between benign and malignant lesions could be obtained by calculating the SUV at about 200 minutes after injection of (18)FDG, when the peak activity concentration is obtained in malignant tumours.  (+info)

Melanotic neurofibroma in a steer. (7/182)

A melanotic neurofibroma in a steer was investigated histologically, immunohistochemically and ultrastructurally. A very large tumor mass was located in the region of the head and right cheek. The tumor tissue consisted of an admixture of cells resembling Schwann cells and spindle-shaped cells, and they frequently contained melanin granules. Neoplastic Schwann cells were positive for S100 protein, with variation in intensity of staining, but most spindled cells were S100 negative. The tumor cells displayed ultrastructural features similar to those of Schwann cells or perineurial cells. The presence of melanosomes in varying stages of melanization in both cell types suggests that they have a common origin. This is a tumor of neural crest origin showing schwannian and perineurial differentiation, with ectopic production of melanin granules.  (+info)

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. (8/182)

Neurofibromatosis type 1 (NF1) is a common inherited cancer predisposition syndrome. The NF1 gene product, neurofibromin, is hypothesized to function as a tumor suppressor and nearly all NF1 patients develop benign peripheral nerve tumors. These neurofibromas presumably arise from NF1 inactivation in S100(+)Schwann cells, but there is no formal proof for this mechanism. We demonstrate that fibro-blasts isolated from neurofibromas carried at least one normal NF1 allele and expressed both NF1 mRNA and protein, whereas the S100(+)cells typically lacked the NF1 transcript. Our findings further indicate that additional molecular events aside from NF1 inactivation in Schwann cells and/or other neural crest derivatives contribute to neurofibroma formation.  (+info)

A neurofibroma is a benign (non-cancerous) tumor that develops from the nerve sheath, which is the protective covering around nerves. These tumors can grow anywhere on the body and can be found under the skin or deep inside the body. Neurofibromas can vary in size, and they may cause symptoms such as pain, numbness, or tingling if they press on nearby nerves.

Neurofibromas are a common feature of neurofibromatosis type 1 (NF1), a genetic disorder that affects approximately 1 in every 3,000 people worldwide. NF1 is characterized by the development of multiple neurofibromas and other tumors, as well as skin changes such as café-au-lait spots and freckling.

It's important to note that while most neurofibromas are benign, they can rarely undergo malignant transformation and become cancerous. If you have a neurofibroma or are concerned about your risk of developing one, it's important to seek medical advice from a healthcare professional who is familiar with this condition.

A plexiform neurofibroma is a type of neurofibroma, which is a benign tumor that develops from the nerve sheath. In a plexiform neurofibroma, the tumor grows along the nerves and can involve multiple fascicles, leading to a large, diffuse mass. These tumors can occur anywhere in the body but are most commonly found in the head, neck, and trunk.

Plexiform neurofibromas can be associated with neurofibromatosis type 1 (NF1), a genetic disorder that affects approximately 1 in every 3,000 people worldwide. In individuals with NF1, plexiform neurofibromas can cause significant morbidity, including disfigurement, pain, and functional impairment. Additionally, there is a small risk of malignant transformation into a type of cancer called malignant peripheral nerve sheath tumor (MPNST).

The diagnosis of plexiform neurofibromas is typically made based on clinical examination, medical history, and imaging studies such as MRI. A biopsy may be necessary to confirm the diagnosis. Treatment options for plexiform neurofibromas include surgery, radiation therapy, and medication. The choice of treatment depends on several factors, including the size and location of the tumor, the presence of symptoms, and the risk of malignant transformation.

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

Neurofibromin 1 is a protein that is encoded by the NF1 gene in humans. Neurofibromin 1 acts as a tumor suppressor, helping to regulate cell growth and division. It plays an important role in the nervous system, where it helps to control the development and function of nerve cells. Mutations in the NF1 gene can lead to neurofibromatosis type 1 (NF1), a genetic disorder characterized by the growth of non-cancerous tumors on the nerves (neurofibromas) and other symptoms.

Neurofibrosarcoma is a rare type of soft tissue sarcoma, which is a cancer that develops in the soft tissues of the body such as fat, muscle, tendons, blood vessels, and nerves. Neurofibrosarcoma specifically arises from the nerve sheath cells, also known as the Schwann cells, that cover and protect the peripheral nerves.

This type of cancer typically forms a painless mass or tumor in the affected area, which can grow and invade nearby tissues and organs over time. Neurofibrosarcoma can occur anywhere in the body but is most commonly found in the arms, legs, trunk, or head and neck region.

Neurofibrosarcoma can be classified into two main types: conventional and malignant peripheral nerve sheath tumor (MPNST). Conventional neurofibrosarcoma is more common and tends to occur in older adults, while MPNST is a more aggressive form that is associated with genetic disorders such as neurofibromatosis type 1.

Treatment for neurofibrosarcoma typically involves surgical removal of the tumor, along with radiation therapy and/or chemotherapy to help prevent recurrence and spread of the cancer. The prognosis for neurofibrosarcoma varies depending on several factors, including the size and location of the tumor, the patient's age and overall health, and the stage of the disease at diagnosis.

Nerve sheath neoplasms are a group of tumors that arise from the cells surrounding and supporting the nerves. These tumors can be benign or malignant and include schwannomas, neurofibromas, and malignant peripheral nerve sheath tumors (MPNSTs). Schwannomas develop from the Schwann cells that produce the myelin sheath of the nerve, while neurofibromas arise from the nerve's supporting cells called fibroblasts. MPNSTs are cancerous tumors that can grow rapidly and invade surrounding tissues. Nerve sheath neoplasms can cause various symptoms depending on their location and size, including pain, numbness, weakness, or paralysis in the affected area.

Neurofibromatoses are a group of genetic disorders that primarily affect the nervous system. The term "neurofibromatosis" is often used to refer to two specific conditions: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). These conditions are characterized by the growth of tumors on the nerves, called neurofibromas.

Neurofibromatosis type 1 (NF1): This is the most common form of neurofibromatosis, affecting about 1 in every 3,000 people worldwide. NF1 is caused by mutations in the NF1 gene and is characterized by the development of benign tumors on the nerves called neurofibromas. These tumors can develop anywhere on the body, including the skin, spinal cord, and brain. Other common features of NF1 include:

* Freckles in the underarms and groin area
* Lisch nodules (small, noncancerous growths) on the iris of the eye
* Bone abnormalities, such as scoliosis or bowing of the legs
* Learning disabilities or cognitive impairment

Neurofibromatosis type 2 (NF2): This form of neurofibromatosis is much rarer than NF1, affecting about 1 in every 30,000 people worldwide. NF2 is caused by mutations in the NF2 gene and is characterized by the development of benign tumors on the nerves that transmit sound from the inner ear to the brain (acoustic neuromas). These tumors can cause hearing loss, ringing in the ears, and balance problems. Other common features of NF2 include:

* Multiple schwannomas (tumors that develop on the protective covering of the nerves)
* Meningiomas (tumors that develop in the membranes surrounding the brain and spinal cord)
* Skin tumors called neurofibromas, although these are less common than in NF1

It is important to note that while neurofibromatoses can cause a range of symptoms and complications, most people with these conditions have a normal lifespan. With proper medical care and monitoring, it is possible to manage the symptoms and reduce the risk of complications.

Peripheral nervous system (PNS) neoplasms refer to tumors that originate in the peripheral nerves, which are the nerves outside the brain and spinal cord. These tumors can be benign or malignant (cancerous). Benign tumors, such as schwannomas and neurofibromas, grow slowly and do not spread to other parts of the body. Malignant tumors, such as malignant peripheral nerve sheath tumors (MPNSTs), can invade nearby tissues and may metastasize (spread) to other organs.

PNS neoplasms can cause various symptoms depending on their location and size. Common symptoms include pain, weakness, numbness, or tingling in the affected area. In some cases, PNS neoplasms may not cause any symptoms until they become quite large. Treatment options for PNS neoplasms depend on several factors, including the type, size, and location of the tumor, as well as the patient's overall health. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.

Neurofibromatosis 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene, which is located on chromosome 17 and encodes the protein neurofibromin. Neurofibromin is a tumor suppressor protein that regulates cell growth and differentiation.

The NF1 gene mutation leads to the development of benign (non-cancerous) tumors on nerves and skin, called neurofibromas, as well as other clinical features such as café-au-lait spots (light brown patches on the skin), freckling in the axillary or inguinal regions, Lisch nodules (harmless growths on the iris of the eye), and skeletal abnormalities.

Neurofibromatosis 1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, up to 50% of cases result from new mutations in the NF1 gene and occur in people with no family history of the condition.

The clinical manifestations of Neurofibromatosis 1 can vary widely among individuals, even within the same family. The diagnosis is typically made based on clinical criteria established by the National Institutes of Health (NIH). Treatment is generally focused on managing symptoms and addressing complications as they arise, although surgery may be necessary to remove large or symptomatic tumors.

Schwann cells, also known as neurolemmocytes, are a type of glial cell that form the myelin sheath around peripheral nervous system (PNS) axons, allowing for the rapid and efficient transmission of nerve impulses. These cells play a crucial role in the maintenance and function of the PNS.

Schwann cells originate from the neural crest during embryonic development and migrate to the developing nerves. They wrap around the axons in a spiral fashion, forming multiple layers of myelin, which insulates the nerve fibers and increases the speed of electrical impulse transmission. Each Schwann cell is responsible for myelinating a single segment of an axon, with the gaps between these segments called nodes of Ranvier.

Schwann cells also provide structural support to the neurons and contribute to the regeneration of injured peripheral nerves by helping to guide the regrowth of axons to their targets. Additionally, Schwann cells can participate in immune responses within the PNS, such as releasing cytokines and chemokines to recruit immune cells during injury or infection.

Café-au-lait spots are light to dark brown, flat patches on the skin that are benign and usually harmless. The term "café-au-lait" means "coffee with milk," which describes the color of these spots. They can vary in size from a few millimeters to several centimeters in diameter and can appear anywhere on the body, although they are most commonly found on the trunk and buttocks.

While café-au-lait spots are common and can occur in up to 20% of the general population, having multiple (more than six) such spots, especially if they are large or present at birth, may be a sign of an underlying medical condition, such as neurofibromatosis type 1 (NF1), a genetic disorder that affects the growth and development of nerve tissue.

Therefore, it is essential to monitor café-au-lait spots and report any changes or concerns to a healthcare provider.

A neurilemmoma, also known as schwannoma or peripheral nerve sheath tumor, is a benign, slow-growing tumor that arises from the Schwann cells, which produce the myelin sheath that surrounds and insulates peripheral nerves. These tumors can occur anywhere along the course of a peripheral nerve, but they most commonly affect the acoustic nerve (vestibulocochlear nerve), leading to a type of tumor called vestibular schwannoma or acoustic neuroma. Neurilemmomas are typically encapsulated and do not invade the surrounding tissue, although larger ones may cause pressure-related symptoms due to compression of nearby structures. Rarely, these tumors can undergo malignant transformation, leading to a condition called malignant peripheral nerve sheath tumor or neurofibrosarcoma.

A neuroma is not a specific type of tumor, but rather refers to a benign (non-cancerous) growth or swelling of nerve tissue. The most common type of neuroma is called a Morton's neuroma, which typically occurs between the third and fourth toes in the foot. It develops as a result of chronic irritation, compression, or trauma to the nerves leading to the toes, causing them to thicken and enlarge.

Morton's neuroma can cause symptoms such as pain, numbness, tingling, or burning sensations in the affected area. Treatment options for Morton's neuroma may include rest, ice, orthotics, physical therapy, medication, or in some cases, surgery. It is essential to consult a healthcare professional if you suspect you have a neuroma or are experiencing related symptoms.

Myelography is a medical imaging technique used to examine the spinal cord and surrounding structures, such as the spinal nerves, intervertebral discs, and the spinal column. This procedure involves the injection of a contrast dye into the subarachnoid space, which is the area surrounding the spinal cord filled with cerebrospinal fluid (CSF). The dye outlines the spinal structures, making them visible on X-ray or CT scan images.

The primary purpose of myelography is to diagnose various spinal conditions, including herniated discs, spinal stenosis, tumors, infection, and traumatic injuries. It can help identify any compression or irritation of the spinal cord or nerves that may be causing pain, numbness, weakness, or other neurological symptoms.

The procedure typically requires the patient to lie flat on their stomach or side while the radiologist inserts a thin needle into the subarachnoid space, usually at the lower lumbar level. Once the contrast dye is injected, the patient will be repositioned for various X-ray views or undergo a CT scan to capture detailed images of the spine. After the procedure, patients may experience headaches, nausea, or discomfort at the injection site, but these symptoms usually resolve within a few days.

Vagus nerve diseases, also known as vagus nerve disorders, refer to conditions that affect the functioning of the vagus nerve. The vagus nerve is the tenth cranial nerve and extends from the brainstem to the abdomen, playing a crucial role in regulating various automatic functions of the body such as heart rate, digestion, respiratory rate, and sweating.

Diseases of the vagus nerve can result from various causes, including inflammation, infection, trauma, compression, or degeneration. Some common vagus nerve disorders include:

1. Vagus nerve dysfunction: This is a general term used to describe any abnormality in the functioning of the vagus nerve. Symptoms may vary depending on the specific functions affected but can include difficulty swallowing, hoarseness, voice changes, and abnormal heart rate or blood pressure.
2. Vagus nerve neuropathy: This is a condition that results from damage to the vagus nerve fibers. It can cause symptoms such as difficulty swallowing, voice changes, and abnormal digestive function.
3. Gastroparesis: This is a condition in which the stomach muscles fail to contract properly, leading to delayed gastric emptying. Vagus nerve dysfunction is a common cause of gastroparesis.
4. Orthostatic hypotension: This is a condition characterized by a drop in blood pressure when standing up from a sitting or lying down position. Vagus nerve dysfunction can contribute to this condition by causing an abnormal response in the heart rate and blood vessels.
5. Inflammatory disorders: Certain inflammatory conditions such as rheumatoid arthritis, lupus, and sarcoidosis can affect the vagus nerve and cause various symptoms.

Treatment for vagus nerve diseases depends on the underlying cause and may include medications, surgery, or lifestyle changes.

Mandibular neoplasms refer to abnormal growths or tumors that develop in the mandible, which is the lower jawbone. These growths can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are typically slow-growing and rarely spread to other parts of the body, while malignant neoplasms can invade surrounding tissues and may metastasize (spread) to distant sites.

Mandibular neoplasms can have various causes, including genetic mutations, exposure to certain chemicals or radiation, and infection with certain viruses. The symptoms of mandibular neoplasms may include swelling or pain in the jaw, difficulty chewing or speaking, numbness in the lower lip or chin, loose teeth, and/or a lump or mass in the mouth or neck.

The diagnosis of mandibular neoplasms typically involves a thorough clinical examination, imaging studies such as X-rays, CT scans, or MRI scans, and sometimes a biopsy to confirm the type and extent of the tumor. Treatment options depend on the type, stage, and location of the neoplasm, and may include surgery, radiation therapy, chemotherapy, or a combination of these approaches. Regular follow-up care is essential to monitor for recurrence or metastasis.

Gingival neoplasms refer to abnormal growths or tumors that occur in the gingiva, which are the part of the gums that surround the teeth. These growths can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms include conditions such as fibromas, papillomas, and hemangiomas, while malignant neoplasms are typically squamous cell carcinomas.

Gingival neoplasms can present with a variety of symptoms, including swelling, bleeding, pain, and loose teeth. They may also cause difficulty with chewing, speaking, or swallowing. The exact cause of these neoplasms is not always known, but risk factors include tobacco use, alcohol consumption, poor oral hygiene, and certain viral infections.

Diagnosis of gingival neoplasms typically involves a thorough clinical examination, including a dental exam and biopsy. Treatment options depend on the type and stage of the neoplasm, but may include surgery, radiation therapy, chemotherapy, or a combination of these approaches. Regular dental check-ups and good oral hygiene practices can help to detect gingival neoplasms at an early stage and improve treatment outcomes.

The scalp is the anatomical region located at the upper part of the human head, covering the skull except for the face and the ears. It is made up of several layers: the skin, the connective tissue, the galea aponeurotica (a strong, flat, tendinous sheet), loose areolar tissue, and the periosteum (the highly vascularized innermost layer that attaches directly to the skull bones). The scalp has a rich blood supply and is home to numerous sensory receptors, including those for touch, pain, and temperature. It also contains hair follicles, sebaceous glands, and sweat glands.

Spinal cord neoplasms refer to abnormal growths or tumors within the spinal cord. These can be benign (non-cancerous) or malignant (cancerous). They originate from the cells within the spinal cord itself (primary tumors), or they may spread to the spinal cord from other parts of the body (metastatic tumors). Spinal cord neoplasms can cause various symptoms depending on their location and size, including back pain, neurological deficits, and even paralysis. Treatment options include surgery, radiation therapy, and chemotherapy.

A lipoma is a common, benign (non-cancerous) soft tissue growth. It is composed of adipose or fatty tissue and typically found just beneath the skin, but they can also occur deeper within the body. Lipomas are usually round, moveable, and painless, although they may cause discomfort if they grow large enough to put pressure on nearby nerves or if they're located in a sensitive area. They generally grow slowly over time. Surgical removal is an option if the lipoma becomes bothersome or grows significantly in size. It's important to note that while lipomas are typically harmless, any new lumps or bumps should be evaluated by a healthcare professional to confirm the diagnosis and rule out other more serious conditions.

S100 proteins are a family of calcium-binding proteins that are involved in the regulation of various cellular processes, including cell growth and differentiation, intracellular signaling, and inflammation. They are found in high concentrations in certain types of cells, such as nerve cells (neurons), glial cells (supporting cells in the nervous system), and skin cells (keratinocytes).

The S100 protein family consists of more than 20 members, which are divided into several subfamilies based on their structural similarities. Some of the well-known members of this family include S100A1, S100B, S100 calcium-binding protein A8 (S100A8), and S100 calcium-binding protein A9 (S100A9).

Abnormal expression or regulation of S100 proteins has been implicated in various pathological conditions, such as neurodegenerative diseases, cancer, and inflammatory disorders. For example, increased levels of S100B have been found in the brains of patients with Alzheimer's disease, while overexpression of S100A8 and S100A9 has been associated with the development and progression of certain types of cancer.

Therefore, understanding the functions and regulation of S100 proteins is important for developing new diagnostic and therapeutic strategies for various diseases.

Neurofibromatosis 2 (NF2) is a genetic disorder characterized by the development of non-cancerous tumors in the nervous system, particularly on the nerves related to hearing and balance. It's also known as central neurofibromatosis or bilateral acoustic neuroma syndrome.

The primary feature of NF2 is the growth of schwannomas, which are tumors that develop from the cells surrounding nerve fibers. These typically grow on the vestibular nerve, leading to hearing loss, ringing in the ears (tinnitus), and balance problems. Bilateral acoustic neuromas (schwannomas affecting both vestibular nerves) are a hallmark of this condition.

Other common features include:

1. Meningiomas: These are tumors that grow in the meninges, the protective layers surrounding the brain and spinal cord.
2. Ependymomas: These are tumors that develop from the ependymal cells lining the ventricles (fluid-filled spaces) in the brain or the spinal cord canal.
3. Neurofibromas: Unlike in Neurofibromatosis type 1, these are less common and typically don't become cancerous.
4. Skin changes: While not as prevalent as in NF1, some people with NF2 may have skin freckles, café-au-lait spots, or skin tumors.
5. Eye problems: Some individuals may experience cataracts, retinal abnormalities, or optic nerve tumors (optic gliomas).
6. Other potential symptoms: Headaches, facial weakness or numbness, and difficulty swallowing or speaking.

NF2 is an autosomal dominant disorder, meaning that a person has a 50% chance of inheriting the condition if one of their parents has it. However, about half of all NF2 cases result from spontaneous genetic mutations with no family history of the disorder.

Soft tissue neoplasms refer to abnormal growths or tumors that develop in the soft tissues of the body. Soft tissues include muscles, tendons, ligaments, fascia, nerves, blood vessels, fat, and synovial membranes (the thin layer of cells that line joints and tendons). Neoplasms can be benign (non-cancerous) or malignant (cancerous), and their behavior and potential for spread depend on the specific type of neoplasm.

Benign soft tissue neoplasms are typically slow-growing, well-circumscribed, and rarely spread to other parts of the body. They can often be removed surgically with a low risk of recurrence. Examples of benign soft tissue neoplasms include lipomas (fat tumors), schwannomas (nerve sheath tumors), and hemangiomas (blood vessel tumors).

Malignant soft tissue neoplasms, on the other hand, can grow rapidly, invade surrounding tissues, and may metastasize (spread) to distant parts of the body. They are often more difficult to treat than benign neoplasms and require a multidisciplinary approach, including surgery, radiation therapy, and chemotherapy. Examples of malignant soft tissue neoplasms include sarcomas, such as rhabdomyosarcoma (arising from skeletal muscle), leiomyosarcoma (arising from smooth muscle), and angiosarcoma (arising from blood vessels).

It is important to note that soft tissue neoplasms can occur in any part of the body, and their diagnosis and treatment require a thorough evaluation by a healthcare professional with expertise in this area.

Dermal neurofibroma do not become malignant. Dermal neurofibromas (sometimes referred to as cutaneous neurofibromas) originate ... Plexiform neurofibroma is a known precursor for MPNST in NF1 patients. The formation of malignant cancers from neurofibromas is ... Neurofibromas have been subdivided into two broad categories: dermal and plexiform. Dermal neurofibromas are associated with a ... Plexiform neurofibromas occur earlier in life and are thought to be congenital defects. Plexiform neurofibroma can cause ...
Neurofibroma multiplex. Budapest, 1893 Dolgozatok a fővárosi bakteriologiai intézetből. Budapest, 1897 Über die leukaemischen ...
Two or more neurofibromas of any type or 1 plexiform neurofibroma Freckling in the axillary (Crowe sign) or inguinal regions ... Neurofibromas may arise sporadically, or in association with NF-1. Neurofibroma conditions are progressive and include: ... whereas resection of a neurofibroma requires the sacrifice of the underlying nerve. Nerve root neurofibroma. Bones, especially ... benign skin tumors called neurofibromas, and larger benign tumors of nerves called plexiform neurofibromas, scoliosis ( ...
59:361-6. Tandon DA, Bahadur S, Misra NK, Deka RC & Kapila K. (1992). Parapharyngeal neurofibromas. J Laryngol Otol. 106:243-6 ...
A tumor simulating the plexiform neurofibroma. Am J Surg Pathol. 1983; 7:691-697. [PubMed: 6638259] Berg JC, Scheithauer BW, ... Intranodal palisaded myofibroblastoma List of inclusion bodies that aid in diagnosis of cutaneous conditions Neurofibroma ...
They are distinct from schwannoma and neurofibroma. Intraneural perineurioma is a neoplastic proliferation of perineurial cells ...
Chung IH, Kim NH, Choi IY (1973). "Macrodactylism associated with neurofibroma of the median nerve. A case report". Yonsei Med ...
Other similar diagnoses include molluscum contagiosum, hemangioma and neurofibroma. Non-X histiocytoses List of cutaneous ...
The approval was based on a clinical trial of children who had NF-1 and inoperable plexiform neurofibromas (defined as a PN ... Selumetinib is used for the treatment of neurofibromas in those with neurofibromatosis type I (NF-1). This is a rare, ... It is approved specifically for children who have symptomatic, inoperable plexiform neurofibromas (PN), which are tumors ... April 2020). "Selumetinib in Children with Inoperable Plexiform Neurofibromas". New England Journal of Medicine. 382 (15): 1430 ...
Neurofibromas are associated with neurofibromatosis 1 (NF1). Meningiomas and schwannomas are associated with neurofibromatosis ... neurofibromas). Extradural tumors are located outside the dura mater most commonly in the vertebral bodies from metastatic ...
Bednar, B. (March 1957). "Storiform neurofibromas of the skin, pigmented and nonpigmented". Cancer. 10 (2): 368-376. doi: ...
It may be mistaken for a nevocytic nevus, neurofibroma, and pyogenic granuloma. The presence of several should alert to seeking ...
He suffered from multiple neurofibromata later in his life. Before taking up his job in the museum, O'Mahony described himself ...
For instance, the Schwann cell, which is the major neoplastic cell component of neurofibroma, is cytologically distinguished by ... Benign peripheral nerve sheath tumors include schwannomas and neurofibromas. A malignant peripheral nerve sheath tumor (MPNST) ... "Spinal Cord Tumors -- Nerve Sheath Tumors (Schwannomas and Neurofibromas)". Mayo Clinic. Retrieved 2007-08-06. Slomiany MG, Dai ... are also present in neurofibromas. A population of CD34-positive cells with an unknown histogenesis is also found. Louis, DN.; ...
Neurofibromas do not become malignant but can cause cosmetic concerns as well as local pruritus. When present in the spine they ... Plexiform neurofibromas are seen in 30-50% of patients. Optic pathway gliomas are seen in 15-20% of patients with ... Neurofibromas are benign nerve sheath tumors that occur in peripheral nerves. These typically develop during the teenage years ... He described a short man with a large tumor which was likely a plexiform neurofibroma. However, there are artistic or ...
The neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. It appears in the sex cord-stromal tumour ...
He had a facial tumor called a neurofibroma caused by a genetic disorder. The tumor was so massive that the man could not eat ...
NAME refers to nevi, atrial myxoma, myxoid neurofibromas, and ephelides. Testicular cancer, particularly Sertoli cell type, is ...
Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), ... Café-au-lait spots are the most common sign of NF1, but other symptoms include lisch nodules of iris, cutaneous neurofibromas ( ... In 2013, two conditional knockout mouse models, called Dhh-Cre;Nf1flox/flox (which develops neurofibromas similar to those ... December 2016). "Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas". The New England Journal ...
"Neurofibromas in NF1: Schwann Cell Origin and Role of Tumor Environment." Science (2002) 296.5569: 920-922. Yuan Zhu, et al. " ...
Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others ...
Internal spinal mass such as spinal astrocytoma, ependymoma, schwannoma, neurofibroma, and achondroplasia causes vertebrae ...
After undergoing an excisional biopsy, it was revealed that the nodule had developed into neurofibroma. Originally the patient ...
January 2021). "Cabozantinib for neurofibromatosis type 1-related plexiform neurofibromas: a phase 2 trial". Nature Medicine. ...
This is a disease that results in the formation of pigmented, cutaneous neurofibromas. These masses, in a specific case, were ...
Schwannomas occur instead of the neurofibromas that are hallmarks of neurofibromatosis Type 1 (NF1). Multiple schwannomas ...
Other causes of ptosis include eyelid neoplasms, neurofibromas or cicatrization after inflammation or surgery. Mild ptosis may ...
In 2004, McKinnon was invited on a mission to Romania to treat a similar patient with a giant neurofibroma tumor. With a team ... In 1999, McKinnon treated a Michigan woman with a large tumor disorder, neurofibroma, at the University of Chicago. He removed ...
"Somatic NF1 mutational spectrum in benign neurofibromas: MRNA splice defects are common among point mutations". Human Genetics ...
... is a condition characterized by axillary freckling, neurofibromas and/or CNS gliomas. Apert syndrome ...
Dermal neurofibroma do not become malignant. Dermal neurofibromas (sometimes referred to as cutaneous neurofibromas) originate ... Plexiform neurofibroma is a known precursor for MPNST in NF1 patients. The formation of malignant cancers from neurofibromas is ... Neurofibromas have been subdivided into two broad categories: dermal and plexiform. Dermal neurofibromas are associated with a ... Plexiform neurofibromas occur earlier in life and are thought to be congenital defects. Plexiform neurofibroma can cause ...
Neurofibroma is an uncommon benign tumor of the oral cavity derived from the cells that constitute the nerve sheath. See the ... sporadic neurofibroma), diffuse neurofibroma, plexiform neurofibroma, and epithelioid neurofibroma. ... Dermal neurofibromas arise from a single peripheral nerve, while plexiform neurofibromas are associated with multiple nerve ... Another review of head and neck neurofibromas reported that approximately 25% of all neurofibromas are seen in the head and ...
He says that he has ,b,neurofibroma Type 1,/b,. So when he inserts in me it hurts me very much and the pain is unbearable. He ... What is the treatment for neurofibroma?. Answered by: Dr Ajay Sharma , Senior Consultant,. Department of Urology,. Sir Ganga ... He says that he has neurofibroma Type 1. So when he inserts in me it hurts me very much and the pain is unbearable. He says it ... Home » Frequently asked Questions on Health » What is the treatment for neurofibroma? ...
Most neurofibromas of the gastrointestinal tract are noted in the stomach and duode.. ... Neurofibromas of the colon are extremely rare and usually, occur in association with NF1. Isolated neurofibromas without any ... Neurofibromatosis; Intestinal; Rectal lesion; Neurofibroma. Introduction. Solitary gastrointestinal neurofibroma is a very rare ... The Isolated Rectal Neurofibroma: A Rare Case Report Parmar ZB* Department of Radiodiagnosis, Gujarat Cancer and Research ...
Neurofibroma is an uncommon benign tumor of the oral cavity derived from the cells that constitute the nerve sheath. See the ... sporadic neurofibroma), diffuse neurofibroma, plexiform neurofibroma, and epithelioid neurofibroma. ... Dermal neurofibromas arise from a single peripheral nerve, while plexiform neurofibromas are associated with multiple nerve ... Another review of head and neck neurofibromas reported that approximately 25% of all neurofibromas are seen in the head and ...
Neurofibromatosis, solitary neurofibroma Abstract. Background: Solitary neurofibroma in the absence of neurofibromatosis is of ... A rare case of a solitary intraocular neurofibroma Authors. * Umil Chawla Pt BD Sharma PGIMS Rohtak, ... Objective: To report a case of a solitary intra-ocular neurofibroma.. Case: A 65-year-old man presented to us with a large ... Chawla, U., Khurana, A., Anand, N., & Jain, P. (2013). A rare case of a solitary intraocular neurofibroma. Nepalese Journal of ...
Prabhakara V G, Jayaraman M, Kamalam A, Yesudian P a. Neurofibroma occurring in patients with rheumatoid arthritis. Indian J ... Neurofibroma occurring in patients with rheumatoid arthritis ... examination of papules showed the features of neurofibroma. ...
The MEK inhibitor selumetinib reduces spinal neurofibroma burden in patients with NF1 and plexiform neurofibromas ... patients may be affected by nerve sheath tumors such as neurofibromas, plexiform neurofibromas (PN), and intramedullary glial ... Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med 2016;375:2550-60 doi:10.1056/ ... Preclinical evidence for the use of sunitinib malate in the treatment of plexiform neurofibromas. Pediatr Blood Cancer 2016;63: ...
... and Inoperable Plexiform Neurofibromas Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas ... Patients With Plexiform Neurofibromas Medical Treatment of "High-Risk" Neurofibromas Fludeoxyglucose F 18 Positron Emission ... Patient With Plexiform Neurofibromas Treatment of NF1-related Plexiform Neurofibroma With Trametinib Subtle Myocardial ... Patients With Plexiform Neurofibromas Ranibizumab for Neurofibromas Associated With Neurofibromatosis 1 AZD2171 in Treating ...
Neurofibroma is an uncommon benign tumor of the oral cavity derived from the cells that constitute the nerve sheath. See the ... encoded search term (Oral Neurofibroma) and Oral Neurofibroma What to Read Next on Medscape ... Plexiform neurofibroma of the cheek mucosa. A case report. Med oral. May-Jul 2004. 9:263-7. [QxMD MEDLINE Link]. [Full Text]. ... Oral Neurofibroma Differential Diagnoses. Updated: Jul 18, 2013 * Author: Indraneel Bhattacharyya, DDS, MSD; Chief Editor: ...
The same pathway is also activated in plexiform neurofibromas (PNs) which are low-grade tumors involving peripheral nerves in ... Group 2 includes NF1 patients with plexiform neurofibroma. Group 3 includes patients with progressing/refractory glioma with ... NF1 with Plexiform Neurofibroma. Up to 50% of NF1 patients will develop plexiform neurofibromas (PNs) which affect large ... NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. Neurol. 2007;68(9):643-7. ...
Neurofibroma is an uncommon benign tumor of the oral cavity derived from the cells that constitute the nerve sheath. See the ... sporadic neurofibroma), diffuse neurofibroma, plexiform neurofibroma, and epithelioid neurofibroma. ... Dermal neurofibromas arise from a single peripheral nerve, while plexiform neurofibromas are associated with multiple nerve ... Another review of head and neck neurofibromas reported that approximately 25% of all neurofibromas are seen in the head and ...
How do you get rid of neurofibromas?. Neurofibromas can be removed in a variety of methods. Typically, a neurofibroma is ... Can neurofibromas be removed?. When a neurofibroma forms, it does not go away on its own and frequently grows in size over time ... A large neurofibroma can cause problems such as weakness or paralysis of the arm or leg, difficulty breathing, or poor vision. ... However, most neurofibromas are small and not cause any symptoms.. People with neurofibromatosis have an increased risk of ...
A neurofibroma is a benign, non-cancerous, nerve tumor that presents as a soft, flesh colored, bump on or under the skin. It ...
MARTORELLI, Sérgio Bartolomeu de Farias et al. Neurofibroma isolado da cavidade oral: relato de caso. Rev. cir. traumatol. buco ... Os neurofibromas solitários são neoplasias benignas, originadas do tecido nervoso, cuja ocorrência na cavidade oral é rara. ... No presente artigo os autores relatam um caso clínico de um neurofibroma intraoral solitário na região anterior de mandíbula ...
Get the resources you need to discover effective therapies for neurofibromatosis through our open proposal program.
The present case is a report of sporadic gingival neurofibroma in an 18 year ol ... Neurofibromatosis type 1 may present as a gingival neurofibroma in a patient with no family history. Accurate diagnosis will ... Neurofibromatosis type 1 may present as a gingival neurofibroma in a patient with no family history. Accurate diagnosis will ... The present case is a report of sporadic gingival neurofibroma in an 18 year old male. ...
NEUROFIBROMAS. Diagnosis and management of the entire spectrum of skin and venereal diseases, including, diseases of infancy ... The neurofibromas are benign tumors of the nerves with frequent substrate the presence of neurofibromatosis. Patients suffering ... from neurofibromas often have numerous tumors all over their body.. When a tumor begins to cause pain, manifested by loss of ...
Targeted therapy approved for plexiform neurofibroma. *selumetinib sulfate (Koselugo). Targeted therapy approved for prostate ...
Find all the information on Neurofibromatosis Type 1 with Cutaneous Neurofibromas and talk to all the patients suffering from ... Neurofibromatosis Type 1 with Cutaneous Neurofibromas: Get informed. Neurofibromatosis Type 1 with Cutaneous Neurofibromas: Get ... Tumours called neurofibromas affect the skin. They are often benign. They can be situated on the skin (cutaneous) or under the ... skin (subcutaneous). There is an increased risk of cancer for subcutaneous neurofibromas. If their size increases or if they ...
Dive into the research topics of Giant neurofibroma of the tongue. Together they form a unique fingerprint. ...
Neurofibroma around the Ear Canal: Report of Three Cases.. Satar B, Hıdır Y, Aşık MB, Aydın Ü, Gerek M, Yavan İ. J Int Adv Otol ... Giant plexiform neurofibroma with hemorrhage in cranio-maxillofacial region as depicted on CT and MRI. ... Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1.. Lammert M, Friedman JM, Roth HJ, ... Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial ...
Hence, here we would like to suggest a new nomenclature for this neurofibroma, the trident neurofibroma. ... Cervical Trident-Shaped Neurofibroma: A Rare Variant. Inamul Haque. 1 Department of Neurosurgery, GNRC Hospitals, Dispur, Assam ... Sporadic and multiple neurofibromas in the head and neck region: a retrospective study of 33 years. Clin Oral Investig 2007; 11 ... spinal tumors - extramedullary - neurofibroma - dumbbell - laminoplasty Publication History. Article published online:. 07 June ...
Diffuse neurofibroma is the rarest subtype of neurofibromas. We present a case of a 39-year-old Micronesian male presenting ... most commonly including café-au-lait macules and neurofibromas. The incidence of NF1 is approximately one in 3,000 individuals ... with a substantially large and heavy overgrowth on his back, found to be consistent with diffuse neurofibroma on ... Diffuse neurofibroma is the rarest subtype of neurofibromas. We present a case of a 39-year-old Micronesian male presenting ...
Ciliary body melanoma (see the image below) is a rare tumor. It is encountered approximately one tenth as often as is choroidal melanoma.
Solitary Neurofibroma of the Floor of the Mouth: A Case Report. Motoyoshi Maruyama , Hiroaki Fushiki , Yukio Watanabe ...
Whole-body MRI study indicates dynamic changes in neurofibroma size in adults with neurofibromatosis ... The volume of internal neurofibromas (iNFs) can change over time in adults with neurofibromatosis type 1 (NF1), including ...
Neurofibroma of the external genitalia, extreme enlargement of the clitoris. Almesned, Razan; Alhagbani, Mohamed; Sultan, ...
Ciliary body melanoma (see the image below) is a rare tumor. It is encountered approximately one tenth as often as is choroidal melanoma.
  • Plexiform neurofibroma are more difficult to treat and can transform into malignant tumors. (wikipedia.org)
  • Plexiform neurofibroma can cause disfigurement, neurological, and other clinical deficits. (wikipedia.org)
  • Plexiform neurofibroma is a known precursor for MPNST in NF1 patients. (wikipedia.org)
  • Oral cavity involvement by a solitary and peripheral plexiform neurofibroma in patients with no other signs of neurofibromatosis is uncommon. (medscape.com)
  • Plexiform neurofibroma arises along peripheral nerves and tends to involve the smaller branches of the nerves, producing a poorly circumscribed and locally invasive tumor. (medscape.com)
  • Plexiform neurofibroma of the cheek mucosa. (medscape.com)
  • Oral plexiform neurofibroma not associated with neurofibromatosis type I: case report. (medscape.com)
  • Group 2 includes NF1 patients with plexiform neurofibroma. (biomedcentral.com)
  • These advances are described in the manuscript "Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived Schwann cells," published in Scientific Data on June 12. (n-tap.org)
  • Methods: Plexiform neurofibroma interactive segmentation tool (PNist) is a new tool to segment PNs in STIR MRI scans. (huji.ac.il)
  • Natural Hip Dislocation Further complicating the treating of Cancerous Side-line Neurological Sheath Cancer Arising Inside a Plexiform Neurofibroma. (iap-signal.com)
  • In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor or sporadic neurofibroma), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease. (wikipedia.org)
  • According to the World Health Organization classification system, dermal and plexiform neurofibromas are grade I tumors. (wikipedia.org)
  • The same pathway is also activated in plexiform neurofibromas (PNs) which are low-grade tumors involving peripheral nerves in patients with neurofibromatosis type 1 (NF1). (biomedcentral.com)
  • The neurofibromas are benign tumors of the nerves with frequent substrate the presence of neurofibromatosis. (papadavid.gr)
  • Patients suffering from neurofibromas often have numerous tumors all over their body. (papadavid.gr)
  • The results of this work set the stage for future experiments to: (1) test effective, already-approved drugs for plexiform neurofibromas and other "benign" tumors, (2) discover new pathway interactions that drive tumor growth, and (3) show how cells with different genetic signatures react to various drug combinations. (n-tap.org)
  • Spinal nerve root tumors can arise throughout the spine and at multiple levels, likely representing plexiform neurofibromas that grow from the nerve root into the intraspinal space either intradurally or epidurally and exit through the neural foramen, producing a dumbbell-shaped appearance. (thieme-connect.com)
  • Many people with NF1 develop tumors called plexiform neurofibromas (PNs) that grow along nerve cells. (nih.gov)
  • Plexiform neurofibromas (PNs) are tumors that arise from nerve fascicles and tend to grow along the length of the nerve. (merck.com)
  • The disease is associated with many symptoms, including soft lumps on and under the skin (subcutaneous neurofibromas), skin pigmentation (cafe au lait spots) and, in 20-50 percent of patients, tumors on the nerve sheaths (plexiform neurofibromas). (merck.com)
  • The tumors are neurofibromas, which develop from nerve sheaths and consist of mixtures of Schwann cells, fibroblasts, neural cells, and mast cells. (msdmanuals.com)
  • Assess feasibility of the study algorithm in identifying atypical neurofibromas (ANs), atypical neurofibromatous neoplasms of unknown biologic potential (ANNUBPs), CDKN2A/B mutated lesions, and/or malignant peripheral nervous sheath tumors (MPNS. (who.int)
  • Neurofibroma is seen either as a solitary lesion or as part of the generalized syndrome of neurofibromatosis (usually neurofibromatosis type 1 [NF-1], also called von Recklinghausen disease of the skin). (medscape.com)
  • Solitary neurofibroma in the absence of neurofibromatosis is of rare occurrence and very few cases have been reported till date. (nepjol.info)
  • After knowing the extent and origin of mass lesion, right eyeball was enucleated and subjected to histopathological examination which revealed intraocular neurofibroma in the absence of neurofibromatosis which is of very rare occurrence. (nepjol.info)
  • Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder of the nervous system that is associated with significant morbidity, including cutaneous and plexiform neurofibromas, optic pathway gliomas, skin pigmentation, bone deformities, neurocognitive deficits, and an increased risk of several types of cancer. (nfnetwork.org)
  • Diffuse neurofibroma (as sometimes seen with neurofibromatosis) may involve the tongue, resulting in macroglossia that may require differentiation from amyloidosis and lymphangioma. (medscape.com)
  • A solitary neurofibroma may be a precursor to neurofibromatosis (also see Neurofibromatosis, Type 1), and the patient should be evaluated with this in mind. (medscape.com)
  • Neurofibromatosis type 1 may present as a gingival neurofibroma in a patient with no family history. (authorea.com)
  • Plexiform neurofibromas affect up to 50 percent of people with neurofibromatosis type I (NF1), a rare disease of the nervous system for which there are no approved drug therapies. (n-tap.org)
  • Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study. (nih.gov)
  • The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. (nih.gov)
  • Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1. (thieme-connect.com)
  • Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with variable clinical features, most commonly including café-au-lait macules and neurofibromas. (hcahealthcare.com)
  • The volume of internal neurofibromas (iNFs) can change over time in adults with neurofibromatosis type 1 (NF1), including complete resolution in some untreated patients, researchers say. (neurodiem.no)
  • The article 'A Qualitative Study of the Impact of Plexiform Neurofibromas on Need Fulfilment in Adults with Neurofibromatosis Type 1' has been accepted for publication in SAGE Open Medicine. (galen-research.com)
  • Solitary neurofibroma is a rare benign nonodontogenic tumor which may present either as a solitary lesion or as part of the generalized syndrome of neurofibromatosis or von Recklinghausen's disease of the skin. (mdcan-uath.org)
  • A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. (wikipedia.org)
  • In contrast to schwannomas, another type of tumor arising from Schwann cells, neurofibromas incorporate many additional types of cells and structural elements in addition to Schwann cells, making it difficult to identify and understand all the mechanisms through which they originate and develop. (wikipedia.org)
  • About 10% of plexiform neurofibromas undergo transformation into a malignant peripheral nerve sheath tumor. (wikipedia.org)
  • Neurofibroma is an uncommon benign tumor of the oral cavity derived from the cells that constitute the nerve sheath. (medscape.com)
  • The second type, neurofibroma, is a benign tumor that develops from nerve cells (schwann cells), their supporting tissue (collagen and elastin fibers), and blood vessels. (staminacomfort.com)
  • A neurofibroma is a benign, non-cancerous, nerve tumor that presents as a soft, flesh colored, bump on or under the skin. (lakesidedermatology.com)
  • Neurofibroma is a nerve tumor that forms soft bumps on the skin or beneath it. (drkirankj.com)
  • The tumor (neurofibroma) tends to be benign in most cases and rarely becomes malignant. (drkirankj.com)
  • Neurofibroma is treated by removing the whole tumor or a part of it that's pressing on nearby tissue or damaging organs. (drkirankj.com)
  • The solitary cervical neurofibroma was treated surgically in a single stage through laminoplasty and excision of the intradural tumor along with that of the neck component. (thieme-connect.com)
  • The most common tumor in children and adults with NF1 is the neurofibroma, a peripheral nerve sheath tumor composed of Schwann-like cells. (wustl.edu)
  • They found that implanting human NF1 Schwann-like cells into the nerves of mice resulted in the formation of bona fide neurofibromas, thus creating the first human model of this common tumor. (wustl.edu)
  • Humanized neurofibroma model from induced pluripotent stem cells delineates tumor pathogenesis and developmental origins. (wustl.edu)
  • Nodular plexiform neurofibromas may involve spinal nerve roots, typically growing through an intervertebral foramen to cause intraspinal and extraspinal masses (dumbbell tumor). (msdmanuals.com)
  • Diagnose tumor predisposing syndromes and associated permitieron el diagnóstico de un neurofibroma vesical. (bvsalud.org)
  • Dermal neurofibromas (sometimes referred to as cutaneous neurofibromas) originate in nerves in the skin. (wikipedia.org)
  • Three kinds are distinguished: Discrete cutaneous neurofibromas: Sessile or pedunculated masses on the skin, which are fleshy and non-tender, and can vary in size. (wikipedia.org)
  • Moreover, they identified the cell that gives rise to cutaneous neurofibromas, and used this information to design mice that develop classic cutaneous neurofibromas, similar to those found in people with NF1. (wustl.edu)
  • Dr. Le and his team then used these mice to show that drugs that block MEK activity decrease the growth of cutaneous neurofibromas. (wustl.edu)
  • Cutaneous neurofibromas are soft and fleshy. (msdmanuals.com)
  • Solitary neurofibroma on the hard palate. (medscape.com)
  • Localized or solitary neurofibroma is the most frequent manifestation and develops along a peripheral nerve as a focal mass with well-defined margins but not encapsulated. (medscape.com)
  • Localized or solitary neurofibroma is rare in infancy and typically appears in late childhood or during teenage years. (medscape.com)
  • The majority of isolated or solitary neurofibromas are sporadic, and a small minority may be associated with the NF-1 syndrome. (medscape.com)
  • Solitary neurofibroma of the colon is extremely rare. (omicsonline.org)
  • Solitary gastrointestinal neurofibroma is a very rare presentation. (omicsonline.org)
  • To report a case of a solitary intra-ocular neurofibroma. (nepjol.info)
  • Depprich R, Singh DD, Reinecke P, Kübler NR, Handschel J. Solitary submucous neurofibroma of the mandible: review of the literature and report of a rare case. (medscape.com)
  • Extra-osseous solitary hard palate neurofibroma. (medscape.com)
  • Shimoyama T, Kato T, Nasu D, Kaneko T, Horie N, Ide F. Solitary neurofibroma of the oral mucosa: a previously undescribed variant of neurofibroma. (medscape.com)
  • Skouteris CA. Incidence of solitary intraosseous neurofibroma of the maxilla. (medscape.com)
  • 2 Hamdoon Z, Jerjes W, Al-Delayme R, Hopper C. Solitary giant neurofibroma of the neck subjected to photodynamic therapy: case study. (thieme-connect.com)
  • Discrete subcutaneous neurofibromas: Lie below and look like bumps on the skin, which can sometimes be tender. (wikipedia.org)
  • Deep nodular neurofibromas: Involving tissues and organs underneath the dermis, but otherwise resembling cutaneous and subcutaneous neurofibromas. (wikipedia.org)
  • There is an increased risk of cancer for subcutaneous neurofibromas. (carenity.co.uk)
  • Subcutaneous neurofibromas are firm and nodular. (msdmanuals.com)
  • 1 , 2 The syndrome is characterized by a combination of clinical traits: café au lait macules, Lisch nodules (iris hamartomas), neurofibromas (cutaneous, subcutaneous, plexiform), optic pathway gliomas, and bone dysplasia. (ajnr.org)
  • An uncommon variant of neurofibroma is the diffuse neurofibroma, which typically involves the skin and subcutaneous tissues, resulting in enlargement of affected tissues. (medscape.com)
  • Diffuse Neurofibroma in a Micronesian Male" by Christy T. Behnam, Angel Juarez et al. (hcahealthcare.com)
  • Diffuse neurofibroma is the rarest subtype of neurofibromas. (hcahealthcare.com)
  • We present a case of a 39-year-old Micronesian male presenting with a substantially large and heavy overgrowth on his back, found to be consistent with diffuse neurofibroma on histopathologic examination. (hcahealthcare.com)
  • Behnam C, Juarez A, Watson B, Faris M. Diffuse Neurofibroma in a Micronesian Male. (hcahealthcare.com)
  • Approximately 21% of patients with NF-I present with plexiform neurofibromas. (medscape.com)
  • Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. (medscape.com)
  • Malignant transformation of diffuse neurofibromas is rare, and rapid growth and careful microscopic examination of the biopsy sample is essential to rule out such a change. (medscape.com)
  • However, most neurofibromas are small and not cause any symptoms. (staminacomfort.com)
  • Neurofibroma symptoms are usually mild or absent. (drkirankj.com)
  • Los neurofibromas vesicales son extremadamente signs and symptoms of urinary and intestinal dysfunction associated with raros. (bvsalud.org)
  • Plexiform neurofibromas can grow from nerves in the skin or from more internal nerve bundles, and can be very large (with mass in the tens of kilograms). (wikipedia.org)
  • Without enough working neurofibromin, plexiform neurofibromas can form on nerves throughout the body. (n-tap.org)
  • Neurofibromas are often found growing on the nerves and in organs. (uhhospitals.org)
  • While mouse models of plexiform neurofibromas have been developed, Dr. Lu Le, Professor of Dermatology at the University of Texas-Southwestern joined forces with Drs. Corina Anastasaki and David Gutmann to develop a human model of neurofibroma. (wustl.edu)
  • Diffuse plexiform neurofibromas (subcutaneous nodules or amorphous overgrowth of underlying bone or Schwann cells) can be disfiguring and may cause deficits distal to the neurofibroma. (msdmanuals.com)
  • Neurofibromas arise from nonmyelinating-type Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin. (wikipedia.org)
  • The formation of malignant cancers from neurofibromas is associated with the loss of expression of the CDKN2A or TP53 gene in nonmyelinating Schwann cells that also exhibit biallelic inactivation of the NF1 gene. (wikipedia.org)
  • Plexiform neurofibromas involve several kinds of cells, but they are believed to arise from Schwann cells, a type of neural support cell, that are missing both copies of the NF1 gene. (n-tap.org)
  • Os neurofibromas solitários são neoplasias benignas, originadas do tecido nervoso, cuja ocorrência na cavidade oral é rara. (bvsalud.org)
  • Neurofibromas can grow large enough to press on major blood vessels and cause problems for those tissues they protect. (staminacomfort.com)
  • Sporadic and multiple neurofibromas in the head and neck region: a retrospective study of 33 years. (medscape.com)
  • Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study. (nih.gov)
  • Neurofibromas that cause severe pain or interfere with breathing may require surgery or radiation therapy immediately after diagnosis. (staminacomfort.com)
  • Dermal neurofibromas typically arise in the teenage years and are often associated with the onset of puberty. (wikipedia.org)
  • Typically, a neurofibroma is 'excised,' or 'cut out,' using a scalpel or other instrument, or it is 'destroyed' with electrosurgery. (staminacomfort.com)
  • Neurofibromas are typically treated with medications to reduce their size and prevent them from growing back too quickly. (staminacomfort.com)
  • Clinically, oral neurofibromas present as pedunculated or sessile slow-growing painless nodules. (mdcan-uath.org)
  • We present a case of neurofibroma of the palate presenting as a sessile nodule in a 38-year-old female that was treated by excision using diode laser along with a relevant review of the literature. (mdcan-uath.org)
  • Complications such as visceral neurofibromas extremadamente variable y predisposición a la ocurrencia de tumores. (bvsalud.org)
  • Diffuse neurofibromas are most often seen in the head and neck region and may involve the oral cavity. (medscape.com)
  • Con el uso de instalaciones de última generación e investigaciones de avanzada, los expertos de UPMC ofrecen opciones quirúrgicas mínimamente invasivas, radiocirugía de columna vertebral en uno de los programas líderes del mundo y cirugía de reconstrucción de la columna vertebral guiada por tomografía computarizada (CT, por sus siglas en inglés). (upmc.com)
  • This section discusses the tumorigenesis of neurofibroma in terms of genetics, cell signaling, histology and the cell cycle. (wikipedia.org)
  • abstract = "Purpose: Volumetric measurements of plexiform neurofibromas (PNs) are time consuming and error prone, as they require the delineation of the PN boundaries, which is mostly impractical in the daily clinical setup. (huji.ac.il)
  • Together, these two laboratories established complementary humanized neurofibroma explant and first-in-kind mouse genetically engineered cutaneous neurofibroma models amenable to future therapeutic target discovery and evaluation. (wustl.edu)
  • 1 features and the complementary exams revealed a vesical neurofibroma. (bvsalud.org)
  • The clinical manifestations of gastrointestinal neurofibroma vary, being completely asymptomatic to massive lower gastrointestinal bleeding requiring aggressive management. (omicsonline.org)
  • Dr. Jaishri Blakeley, the Director of NTAP said, "the goal of this project was to create a reliable and fully characterized set of cell culture systems available to all researchers to encourage therapeutic discovery for neurofibromas and thereby fill a big gap in the research landscape. (n-tap.org)
  • Plexiform neurofibromas have the potential to cause severe clinical complications if they occur in certain areas. (wikipedia.org)
  • Dermal neurofibromas arise from a single peripheral nerve, while plexiform neurofibromas are associated with multiple nerve bundles. (medscape.com)