Giant cell granuloma and neurofibroma in the mandible of a patient with neurofibromatosis type 1: a long-term follow-up case report with radiological and surgical aspects and a review of the literature.

BACKGROUND: Magnetic resonance imaging (MRI) of the brain is frequently performed on patients with neurofibromatosis type 1 (NF1), to detect and follow-up intracranial findings. In addition, NF1-related pathologies can appear in the jaws. This case study investigates if it is advantageous to assess the depicted parts of the jaws in the imaging of NF1 patients with intracranial findings, thereby detecting jaw pathologies in their initial stages. CASE PRESENTATION: We report on the 3-year management with clinical and radiological follow-ups of a central giant cell granuloma and a neurofibroma in the mandible of a patient with NF1 who underwent examinations with brain MRIs. A review of the mandible in the patient's MRIs disclosed lesions with clear differences in progression rates. CONCLUSION: NF1-related jaw pathologies may be detected in the early stages if the depicted parts of the jaws are included in the assessment of the imaging of NF1 patients with intracranial findings. This could impact the treatment of eventual pathologies before lesion progression and further damage to the vicinity.

Neurofibromas of the oral and maxillofacial complex: A 48-year retrospective study.

Neurofibromas are benign neoplasms of the peripheral nerve sheath, characterized by the proliferation of Schwann cells, perineural cells and endoneural fibroblasts. Their occurrence in the oral and maxillofacial complex is uncommon. This study aimed to evaluate the clinical and histopathological characteristics of neurofibromas of the oral and maxillofacial complex excised at our institution over a 48-year period. Using light microscopy, two previously trained oral pathologists re-evaluated all hematoxylin and eosin slides. From a total of 15,375 cases diagnosed at a referred Oral Pathology Service, 24 cases were diagnosed as neurofibromas. Eighteen neurofibroma patients were female, with a mean age of 39.1 years. Three patients presenting neurofibromas exhibited neurofibromatosis type I. Clinically, most of the lesions presented as asymptomatic nodules, and the most frequent sites were the tongue (n = 6; 25.0%), gingiva (n = 6; 25.0%) and intraosseous maxillary bone region (n = 3; 12.5%). Histopathologically, the lesions were predominantly well delimited, exhibiting interlocking bundles of spindle-shaped cells that usually displayed wavy nuclei, associated with delicate collagen fibers. Thus, knowledge of their clinical and histopathological features by dentists and oral pathologists is essential for the correct diagnosis of these lesions.

Solitary neurofibroma of the orbit with intracerebral extension associated with ocular surface melanocytoma: a case report.

Solitary or isolated neurofibroma is uncommonly observed in the orbit. Neurofibromas typically involve peripheral nerves and occasionally the cranial nerves. A 29-year-old man presented with recent onset left eye proptosis and exotropia. Physical examination was positive for hyperpigmented lesions of the ipsilateral ocular surface and hard palate. Imaging revealed an infiltrative orbital mass with extension through superior orbital fissure into the brain. There was also bone defect of greater sphenoid wing. Medial orbitotomy was performed to obtain biopsies of the orbital mass and the pigmented ocular surface lesions. Histopathologic diagnosis of neurofibroma was confirmed for the former and melanocytoma for the latter. His symptoms and examinations remained stable during the follow up. This case is unique due to several features, including extensive intracerebral spread of orbital neurofibroma in a patient without definite diagnosis of neurofibromatosis type 1 and association with ipsilateral ocular surface melanocytoma and palatal pigmented lesions. ABBREVIATIONS: CT: computed tomography; GFAP: glial fibrillary acid protein; MRI: magnetic resonance imaging; NF-1: neurofibromatosis type 1.

Solitary neurofibroma: a rare occurrence on gingiva.

Neurofibromas-benign, slow-growing nerve sheath neoplasms composed of Schwann cells, perineural cells, and fibroblasts-are common neurogenic tumors on skin but uncommon intraorally. A diagnosis of neurofibroma can be established by clinical and histologic examinations. This case report describes an unusual presentation of solitary neurofibroma on the lingual gingiva of the mandibular posterior region of a 22-year-old woman. The patient exhibited no systemic manifestations of neurofibromatosis. Excisional biopsy of the intraoral neurofibroma was performed. Histologically, the neoplasm showed lesional cells arranged in the form of interlacing fascicles. The cells were elongated and had dark-staining, wavy nuclei, ample cytoplasm, and distinct cell borders, all characteristic of Schwann cells. Based on the histopathologic findings, a final diagnosis of neurofibroma was made. The patient returned for periodic reexamination after excision of the tumor, and there was no recurrence after 15 months.

[A 40 year old palatal neurofibroma. A case report]. / 40 éve növekvo neurofibroma a palatumon. Esetismertetés.

Neurofibroma is a benign peripheral nerve sheath tumour, which arises from Schwann cells and perineural fibroblasts. It is one of the most frequent tumours of neural origin and its presence is one of the clinical criteria for the diagnosis of type 1 neurofibromatosis (NF-I) also known as von Recklinghausen's disease (VRD). Oral localization is rarer showing an incidence ranging from 4 to 7% in most series of different authors. The most frequent involvement site in oral neurofibromatosis is the tongue, followed by the oral mucosa and floor of the mouth; palate and maxillary-mandibular bones are a rare localization of the disease. The aim of this article is to report a case of NF-I with a huge, quite old palatal involvement and its treatment.

Oral soft tissue alterations in patients with neurofibromatosis.

Our aim was to characterize the type and frequency of oral soft tissue alterations in neurofibromatosis. A total of 103 patients with neurofibromatosis 1 (NF1) and three patients with neurofibromatosis 2 (NF2) were clinically evaluated for their oral soft tissue alterations. Disturbing growths were removed from nine patients with NF1 and from one patient with NF2. The specimens were analyzed using routine histological methods and with immunohistochemistry using antibodies to S100, type IV collagen, CD34, neurofilament, and neuron-specific tubulin (TUBB3). Alterations including oral tumors, overgrowths of gingival soft tissue, and enlarged papillae of the tongue were discovered in 74% of NF1 patients. The results showed that three tumors clinically classified as plexiform neurofibromas and five out of six discrete mucosal tumors displayed histology and immunohistology consistent with that of neurofibroma. The histology of one palatal lesion resembled that of a scar, and the lesion removed from the patient with NF2 was classified as an amyloid tumor. To conclude, oral soft tissue growths are common findings in NF1, but most lesions do not require treatment and the patients may even not be aware of these alterations. Collagen IV, S100, and CD34 are useful biomarkers in the analysis of NF1-related oral soft tissue tumors. The clinicians should recognize that oral soft tissue alterations are relatively common in NF1. Some of the growths are disturbing, and plexiform neurofibromas may bear a risk of malignant transformation.

A 38-year review of oral schwannomas and neurofibromas in a Brazilian population: clinical, histopathological and immunohistochemical study.

The benign peripheral nerve sheath tumours are rare lesions mainly represented by schwannoma and neurofibroma. The present work evaluated the clinical and histopathological features of schwannomas and neurofibromas of the oral cavity diagnosed in a Brazilian population. Among 9.000 cases of oral lesions archived from 1970 to 2008, four schwannomas and 12 neurofibromas were identified, microscopically revised and immunohistochemically certified through a panel including monoclonal antibodies (anti-S100, vimentin, HHF-35 and desmin). From biopsy and histological sections records, clinical and histopathological data were retrieved, reviewed and statistically analysed. Predominantly, schwannomas affected non-white males (3:1), with an age and size averages of 34.7 years and 2.8 cm, respectively. Neurofibromas preferentially occurred on the gingival/alveolar ridge of white females (5:1), with 35.7-year mean age, peak of incidence between 3rd and 5th decade, and size average of 1.7 cm. (12 cases, 75%). The studied tumours exhibited more frequently as a painless, sessile and slow growth very similar to other oral lesions, but their microscopic features differed significantly. Schwannomas and neurofibromas are extremely uncommon in the oral cavity, exhibiting clinical features very similar but specific and peculiar microscopic findings that are useful in the establishment of the diagnosis, which in some particular cases must be confirmed by immunohistochemistry.

Solitary intraosseous neurofibroma of the mandible: Report of an extremely rare histopathologic feature.

Neurofibroma (NF) is a benign tumor derived from the peripheral nerve sheath. Neurofibromas may present either as solitary lesions or as part of the generalized syndrome of neurofibromatosis or von Recklinghausen's disease of the skin. The intraosseous variant of NF is very rare. We report a case of a 32-year-old female who was diagnosed with a solitary intraosseous neurofibroma of the mandible. The present case is rare with respect to its unique histopathologic feature.

A midline neurofibroma, clinically manifested as a mandibular gingival hyperplasia in a seven-year-old girl whose mother suffers from neurofibromatosis / Neurofibromatosisban szenvedo anya hétéves leánya alsó állcsontjának középvonalában kifejlodo, klinikailag gingivalis hyperplasia képében jelentkezo neurofibroma.

A seven-year-old girl was referred to the Department of Periodontology of the Semmelweis University with a symmetric bilateral, painless, non-inflammatory diffuse enlargement on the lingual aspects of her lower jaw. The family history revealed that her mother and elder sister had Recklinghausen's disease with typical characteristic dermatological signs and they are registered by the National NF Registry. Extraoral examination revealed an evident protrusion of the lips. Intraorally, the buccal gingiva around the upper and lower teeth appeared normal. The little patient had neither dermal nor oral mucous membrane signs characteristic of NF1. With the consent of her parents, the lingual firm mass of gingival enlargement was excised under local anesthesia and the removed tissue was histologically analyzed. The histology approved the clinical diagnosis as solitary neurofibroma. The postoperative healing was uneventful. Because of her very young age and the subtotal excision of the tumor, the patient has been regularly monitored. After one and a half years, recurrence or other sign of tumor regrowth have not been observed. The panoramic radiograph showed normal bone morphology and an age-related dental status with mixed dentition and undisturbed tooth eruption. The present case with a midline bilateral diffuse gingival overgrowth in the mouth of a 7-year-old girl without any characteristic dermatological signs in a family with genetically proven Recklinghausen's disease is very rare and unique in the literature. Orv Hetil. 2020; 161(22): 924-930.

[Solitary neurofibroma of the maxillary sinus]. / Neurofibrome isolé du sinus maxillaire.

OBJECTIVE: To illustrate the rarity and difficulty diagnosing maxillary sinus neurofibroma through a case report. PATIENTS AND METHODS: A 35-year-old female consulted our department for left cheek swelling evolving over 6 months, upper gum swelling, and a dental occlusion disorder. RESULTS: A computed tomography scan showed a tumor of the left maxillary sinus with bone destruction. Histological examination of a biopsy fragment found an in situ carcinoma. A maxillary resection was performed to excise the tumor. Histological examination of the specimen showed a neurofibroma. No sign of recurrence was noted after 8 months of follow-up. CONCLUSION: The difficulty diagnosing maxillary sinus neurofibroma is related to its nonspecific clinical and radiological signs. Consequently, the otorhinolaryngologist must keep this rare histological variety in mind within the range of tumors of the paranasal sinuses.

Intraosseous neurofibroma of maxilla in a child.

Central tumors of neurogenic origin are among the most rare primary jaw tumors in children. Intraosseous neurofibromas of the jaws occur more often as solitary lesions rather than as part of a generalized neurofibromatosis. We are presenting a case of solitary intraosseous neurofibroma of the maxilla in a five-month-old infant, which is probably the youngest such case published in literature so far.

Solitary neurofibroma of the palate. A case report.

The neurofibroma is a benign tumor of neuronal origin not frequently located in the oral cavity. The possible association of this neoplasia with systemic pathologies, such as Von Recklinghausen's disease and multiple endocrine neoplasia, makes its diagnosis fundamental. The diagnosis is, in most cases, quite complex, because of the neurofibroma's strong similarities with a great number of benign neoformations of the connective tissue, of the epithelium, and of the bone. The histology represents, therefore, the fundamental diagnostic criterion, in particular, through the use of appropriate immunohistochemical analysis. This articles presents the case of a solitary neurofibroma, subtype I (common Schwann cell type), detected on the left-hand side of the posterior region of the palate in a 56-year-old woman, which presented itself as an otherwise non-symptomatic ulcerated mass. After a careful anamnesis, an incisional biopsy was performed in order to establish the histological nature of the neoformation. The immunohistochemical test, which resulted positive for S-100 and negative for the epithelial membrane antigen and keratin, allowed the diagnosis of a presumably benign lesion deriving from a neural differentiation. The surgical excision of the entire mass was accompanied by the extraction of the upper left-hand second molar, which was attached to the mass through its palatal root.

Intermittent atlantoaxial subluxation caused by a prolapsing neurofibroma. Case report.

In this report, the authors describe a unique case of intermittent high cervical cord compression caused by a prolapsing neurofibroma at the C1-2 level. This 21-year-old man with known neurofibromatosis Type 1 presented with a mass between the anterior arch of the atlas and the odontoid peg, causing atlantoaxial dissociation and cord compression. The cervicomedullary compression appeared to be caused in part by the neurofibroma but also by the abnormal alignment and thickening of the ligaments between the clivus and C-2. Preoperative imaging repeated on the morning of surgery revealed that the atlantoaxial dissociation had reduced with relief of cord compression and the lesion prolapsed inferiorly. The authors discuss this unusual lesion and describe the associated operative findings and surgical management.

Gingival neurofibroma in a neurofibromatosis type 1 patient.

Neurofibroma is a benign peripheral nerve sheath tumour. It is one of the most frequent tumours of neural origin and its presence is one of the clinical criteria for the diagnosis of type 1 neurofibromatosis (NF-I). Neurofibromatosis type 1 is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (cafe au lait spots and neurofibromas) as well as bone malformations and central nervous system tumours. Diagnosis is based on a series of clinical criteria. Gingival neurofibroma in NF-I is uncommon. Treatment of neurofibromas is surgical resection. The aim of this paper is to report a case of NF-I with gingival involvement and to review the literature.

An inflammatory gene signature distinguishes neurofibroma Schwann cells and macrophages from cells in the normal peripheral nervous system.

Neurofibromas are benign peripheral nerve tumors driven by NF1 loss in Schwann cells (SCs). Macrophages are abundant in neurofibromas, and macrophage targeted interventions may have therapeutic potential in these tumors. We generated gene expression data from fluorescence-activated cell sorted (FACS) SCs and macrophages from wild-type and mutant nerve and neurofibroma to identify candidate pathways involved in SC-macrophage cross-talk. While in 1-month-old Nf1 mutant nerve neither SCs nor macrophages significantly differed from their normal counterparts, both macrophages and SCs showed significantly altered cytokine gene expression in neurofibromas. Computationally reconstructed SC-macrophage molecular networks were enriched for inflammation-associated pathways. We verified that neurofibroma SC conditioned medium contains macrophage chemo-attractants including colony stimulation factor 1 (CSF1). Network analysis confirmed previously implicated pathways and predict novel paracrine and autocrine loops involving cytokines, chemokines, and growth factors. Network analysis also predicted a central role for decreased type-I interferon signaling. We validated type-I interferon expression in neurofibroma by protein profiling, and show that treatment of neurofibroma-bearing mice with polyethylene glycolyated (PEGylated) type-I interferon-α2b reduces the expression of many cytokines overexpressed in neurofibroma. These studies reveal numerous potential targetable interactions between Nf1 mutant SCs and macrophages for further analyses.

Intraosseous nerve sheath tumors in the jaws.

Although the head and neck region is recognized as the most common location for peripheral nerve sheath tumors, central involvement, particularly in the jaw bones, is quite unusual. Neurofibroma is one of the most common nerve sheath tumors occurring in the soft tissue and generally appears in neurofibromatosis 1 (NF1 or von Recklinghausen's disease). Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon sarcomas that almost always arise in the soft tissue. Here, we report four cases of intraosseous peripheral nerve sheath tumors occurring in the jaw bones and compare the clinical, radiologic, and pathologic findings in order to make a differential diagnosis.

Solitary intraosseous neurofibroma of mandible.

Solitary intraosseous neurofibroma is a rare benign non-odontogenic tumor. Although neurofibromas occur predominantly as a feature of neurofibromatosis affecting the soft tissue, a few cases of solitary intraosseous neurofibromas of the jaw have been reported. We herewith report a case of solitary intraosseous neurofibroma of mandible in a middle-aged woman with a discussion on its clinical, radiological, and histopathological presentation along with review of cases.