A gingival hyperplasia in a patient suffering from neurofibromatosis

A 30-year-old woman suffering from neurofibromatosis type 1 was referred by her dentist to the department of oral and maxillofacial surgery of a university medical centre for excision of a gingival hyperplasia in the mandibular frontal region. The hyperplasia was a neurofibroma, which was surgically removed, as were 2 neurofibromas of the tongue, a postauricular neurofibroma and 2 neurofibromas of the feet.     

Surgical treatment of a giant neurofibroma

Neurofibromatosis type 1, an autosomal dominant inherited disease, presents pathologic symptoms of multiple systems, including neurofibromatosis, skeletal dysplasia, café-au-lait spots in skins, and so on. A 45-year-old man with neurofibromatosis type 1 was reported in this article. The patient presented a giant neurofibroma in his head and neck, dysplasia of skull, facial bones and spinal columns, and multiple café-au-lait spots in systematic skins. Satisfactory curative effects were obtained in this case after tumor resection and prosthesis implantation.     

Subtotal and total resection of superficial plexiform neurofibromas of face and neck: four case reports.

INTRODUCTION: Plexiform neurofibromas are benign tumours of the peripheral nerves and connective tissue. They develop most often in patients with neurofibromatosis type 1 (NF1) and often grow continuously. Removal of plexiform neurofibromas is usually unsatisfactory because the network-like growth of these tumours often involves multiple nerve fascicles and other adjacent tissues. It has been previously shown that magnetic resonance tomography can distinguish the growth patterns of plexiform neurofibromas into three different categories: superficial, displacing and invasive. PATIENTS AND METHODS: Three cases are described with successful subtotal resections of superficial plexiform neurofibromas, and one case with total resection following the diagnosis of tumour subtype using magnetic resonance imaging (MRI). RESULTS: There was a significant, lasting improvement in appearance which demonstrates that surgical intervention in the case of superficial plexiform neurofibroma is valuable. CONCLUSION: Careful classification of plexiform neurofibroma by means of MRI provides valuable information for the surgical management of patients. It enables the distinction to be drawn between this subtype and the other two subtypes of plexiform neurofibromas.     

Palatal neurofibroma associated with localized periodontitis

BACKGROUND: Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis. While typically considered a dermatologic disorder, intraoral signs of neurofibromatosis occur quite commonly. This clinical entity can be confused with periodontitis because of the presence of periodontal pockets. In this report, we present the case of a palatal neurofibroma with radiographic involvement in a patient with NF1. METHODS: A 40-year-old female patient was referred from her general dentist to evaluate advanced periodontitis in the maxillary left quadrant. The patient's medical history was significant for a soft tissue lesion excised from her back 11 years previously and diagnosed as a neurofibroma. Subsequent medical examination at that time confirmed a systemic diagnosis of NF1. A comprehensive periodontal evaluation was performed, and panoramic and periapical radiographs were taken. Teeth were tested for vitality. An incisional biopsy was completed for histopathologic examination. RESULTS: The periodontal evaluation revealed the presence of 6 to 9 mm probing depths adjacent to teeth #14 and #15. Panoramic and periapical radiographs showed a circumscribed 0.8x0.9-cm unilocular radiolucency superimposed over the root of tooth #13 and extensive horizontal bone loss on the distal side of #15. Incisional biopsy confirmed the presence of a neurofibroma, and because of the extent of the lesion, the patient was referred to the Oral and Maxillofacial Surgery service for complete excision. CONCLUSIONS: Neurofibromas can cause extensive destruction of alveolar bone, mimicking periodontitis. Due to the potential systemic and genetic implications, the diagnosis of neurofibroma requires appropriate medical referral.     

Neurofibromatosis type I with periodontal manifestation. A case report and literature review

The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is the most common type of NF and accounts for about 90% of all cases. It is one of the most frequent human genetic diseases, with a prevalence of one case in 3,000 births. The expressivity of NF1 is extremely variable, with manifestations ranging from mild lesions to several complications and functional impairment. Oral manifestations can be found in almost 72% of NF1 patients. A case of a NF1 patient with a gingival neurofibroma in the attached gingiva of the lingual aspect of the lower central incisors is presented. The lesion was nodular, with sessile base, non-ulcerated, non-painful, with normal colour and measured 1 cm in diameter. An excisional biopsy of the oral lesion was performed. Histopathological and immunohistochemical analysis confirmed the clinical hypothesis of neurofibroma. Because NF1 is one of the most common genetic diseases and oral manifestations are very common, dentists should be aware of the characteristics of this disease.     

Neurofibroma of the inferior alveolar nerve: diagnostic and management difficulties.

A patient with multiple neurofibromatosis and a neurofibroma of the inferior alveolar nerve is described. The management is discussed with particular reference to difficult aspects of the diagnosis and treatment.     

Multicenter study of wound healing in neurofibromatosis and neurofibroma

Based on clinical experience, the senior author has become convinced that wounds produced to correct the deformities of patients with neurofibromatosis (NF-1) have produced remarkably good scars, the interesting feature being that progression to keloid or hypertrophic scar is rare. The other point noted was that this situation did not change, no matter the patient's race or skin color. There have been few reports describing or discussing this hypothesis. The purpose of this study was to investigate whether wounds produced in the patients with NF-1 produce keloid or hypertrophic scars. The patients with solitary neurofibroma were also included in this study; these were compared with the NF-1 group. This was conducted as a multicenter study. Patients with neurofibromatosis/solitary neurofibroma, who were operated on from 1990 to 2000, were evaluated by reviewing their medical charts and photographs retrospectively. The patients were treated in centers from five different countries. The analysis was undertaken based on the following points: 1) age and sex at surgery; 2) race of the patients; 3) past and family histories of hypertrophic scar and keloid; 4) surgical site(s); 5) diagnosis, NF1 or solitary neurofibroma; 6) surgical complications; 7) number of reoperations to manage the complications; 8) adjuvant therapy for the tumor; 9) depth of the tumors; and 10) incidence of malignant degeneration. A total of 101 cases with neurofibromatosis or solitary neurofibroma was analyzed. The age at surgery ranged from 1 year 6 months to 74 years; sex ratio was 47 males and 54 females. The racial distribution of the patients was 13 white, 13 black, 3 Hispanic, and 58 Asian. There was no past or family history of hypertrophic scar or keloid. The surgical sites were head and neck in 70 cases, trunk in 20 cases, upper extremities in 22 cases, and lower extremities in 20 cases. The clinical diagnosis was NF-1 in 57 cases, solitary neurofibroma in 35 cases, plexiform neurofibroma in four cases, and no distinct clinical diagnosis in five cases. There were no other types of neurofibromatosis. Hematoma and white wide scar were the main postoperative complications found in six cases of NF-1. Infection was also noted in four cases. However, no patient developed hypertrophic scar or keloid in the neurofibromatosis group, whereas two cases showed hypertrophic scar in the solitary neurofibroma group. The outcome showed that the patients with NF-1 and plexiform neurofibroma, no matter the racial group, produce good scars without keloid or hypertrophic changes, whereas solitary neurofibroma has a potential to cause hypertrophic scar.     

Neurofibromatosis type 1 associated with bilateral central giant cell granuloma of the mandible

Neurofibromatosis type 1, or von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans. Clinically, Neurofibromatosis type 1 is characterized by café-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bony defects, Lisch nodules and tumors of the central nervous system. Central giant cell granuloma is a benign central lesion of bone, primarily involving the jaws, of variably aggressive nature characterized by aggregates of multinucleated giant cells in a background of cellular vascular fibrous connective tissue and spindle-shaped mononuclear stromal cells. The association between neurofibromatosis and central giant cell granuloma has been reported in the literature. A case of mandibular bilateral central giant cell granuloma in a patient with Neurofibromatosis type 1 was conservatively but successfully treated by adequate surgical curettage of mandibular bone lesions.     

Solitary neurofibroma of the temporal bone

Neurofibroma is a benign peripheral nerve sheath tumor that can be occasionally found in the head and neck region as multiple lesions associated with neurofibromatosis type 1 (NF-1) or as a solitary tumor. The real frequency of isolated neurofibromas not associated with NF is uncertain, and lesions in the temporal region are extremely rare. The aim of the current article was to report an unusual case of solitary neurofibroma localized in the temporal and infratemporal regions with 10 years of evolution in a female patient without any other manifestation or familiar history of NF-1. The patient underwent surgical treatment for complete excision of the lesion, and the 2-year follow-up revealed no signs of recurrence.     

Von Recklinghausen neurofibromatosis with palatal localization. Diagnostic and surgical problems in two clinical cases

This paper illustrates the clinical findings and aims at report surgical matters observed in 2 patients affected by neurofibromatosis type I with a rare palatal localization. By means of retrospective analysis 2 cases of neurofibromatosis type I with a palatal mass are selected. Both cases were surgically treated and underwent 12 months follow-up. Patients underwent surgical removal of the palatal neurofibroma. At 12 months follow-up a good local condition without any recurrence was observed. Malignant transformation was very rarely reported in oral neurofibromata and can follow incomplete removal. Surgical treatment of neurofibromata requires the sacrifice of the nerve trunk from where they originate, together with the complete removal of the mass with security margins. Therefore, risks and benefits from surgery should be carefully weighted in each patient and where surgery is not performed clinical and radiographic trials are advisable.     

Manifestations of the tongue in Neurofibromatosis type 1

OBJECTIVE: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. SUBJECTS AND METHODS: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. RESULTS: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings were useful in distinguishing between neurofibromas and other soft tissue tumors. An increased prevalence of malignancy has been documented in patients affected by neurofibromatosis type 1. Changes in the size of a pre-existing mass, compression, or infiltration of the adjacent structures indicate malignant degeneration. Histological and clinical evaluation should be performed in order to choose the most appropriate treatment strategy for these patients. CONCLUSION: The oral manifestations of NF are well-documented but may not be at the forefront of the clinician's mind in the differential diagnosis of intra-oral swellings.     

Neurofibroma of the palatal mucosa. A case report

Neurofibromas have not been reported in the periodontal literature. In this case report, a 27-year-old female presented with a complaint of a lump in the maxillary left palatal tissue; periodontal evaluation revealed a mass 15 x 8 x 4 mm on the palatal mucosa. After removal, the region healed without recurrence. The patient was referred to her physician for a physical, and no evidence of neurofibromatosis was found elsewhere, suggesting that this case represented an example of an isolated oral neurofibroma lesion.     

Facial plexiform neurofibroma in a child with neurofibromatosis type I: a case report

Plexiform neurofibroma is a non-circumscribed, thick and irregular benign tumor of the peripheral nerve sheath. It is a virtually pathognomonic and often disabling feature of neurofibromatosis type I. The diffuse and soft nature of plexiform neurofibroma is often compared to 'a bag of worms' and is difficult to distinguish from a vascular malformation or a lymphangioma, thus necessitating thorough clinical and histopathological examination and imaging of the lesion. We present a case of plexiform neurofibroma in a 12-year-old male child.     

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.     

Neurofibromatosis with central neurofibroma of the mandible: review of the literature and report of case.

The clinical, radiographic, and etiological factors of neurofibromatosis have been discussed. A rare case of a large neurofibroma of the mandible in association with systemic neurofibromatosis and a characteristic mandibular dysplasia has been presented. The unique coexistence of mandibular dysplasia associated with sphenoidal and orbital dysplasia should be considered in the diagnosis of multiple neurofibromatosis.     

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.     

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.     

Jaw malformations plus displacement and numerical aberrations of teeth in neurofibromatosis type 1: a descriptive analysis of 48 patients based on panoramic radiographs and oral findings.

AIM: The aim of this study was to analyse jaw malformations and tooth displacement in patients with neurofibromatosis type 1 (NF1). MATERIAL AND METHODS: Forty-eight patients were included in the study (male or female 24 each). All fulfilled the current NIH diagnostic criteria for NF1. The age range was 2.5-66 years. The type of neurofibroma was histologically proven in surgically treated patients. Patients with disseminated cutaneous neurofibromata and those with the plexiform type were distinguished. The analysis was based on physical investigation, photographs, panoramic radiographs and dental casts. RESULTS: With the emphasis on alterations of tooth position, deformities of the adjacent bones and malocclusion, the majority of these patients (26) were affected by plexiform neurofibromata. In the other 22 patients with disseminated neurofibromata, malformations of the alveolar ridge were absent and individual oral symptoms were rarely found and were mild, and in all cases were unimpaired. Numerical aberrations and retention of molars was exclusively associated with a trigeminal nerve affected by plexiform neurofibroma. Aplasia of a second lower molar was recognized in four of these plexiform-neurofibroma patients. CONCLUSION: It is widely accepted that malformations of the facial skeleton are often of genetic origin. However, in this study these malformations were strongly associated with plexiform neurofibromata originating from the trigeminal nerve. Thus, in addition to presently unknown genetic factors, the pattern of skeletal malformation can be caused by tumour invasion and local destruction, e.g. the neuromuscular unit or prenatal development of the plexiform neurofibroma in the inferior alveolar nerve. It is further concluded that epidemiologic studies on the incidence and severity of NF1 in the oral and maxillofacial region have to distinguish between patients with or without plexiform neurofibroma, especially when analysing alterations and deformities of the jaws, teeth and malocclusion. Aplasia of second inferior molars is an additional (dental) finding associated with plexiform neurofibromata in NF1.     

Neurofibroma of the oral cavity

Neurofibromata are uncommon tumours of the oral cavity, and are seen either as solitary lesions or as part of the generalised syndrome of neurofibromatosis. A review of the literature is presented together with a case report of a solitary neurofibroma.     

Sporadic and multiple neurofibromas in the head and neck region: a retrospective study of 33 years

The neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibromatosis type 1 (NF-1). The aim of this study was to analyze the clinical and histopathological features of neurofibromas, particularly the plexiform variant, in the skin and oral mucosa, discussing their pathogenesis as well as clinical management of isolated lesion unassociated with NF1. The clinicopathologic features of 66 neurofibromas in the head and neck region diagnosed at the pathology laboratories of the Bauru Dentistry School and Lauro de Souza Lima Research Institute from 1970 to 2003 were reviewed. The clinical data, therapy, and follow-up information were obtained from the medical records. The results showed a high frequency of cutaneous lesions (81.8%) occurring mainly in females older than 40 years. Isolated neurofibromas were found in 51.2% of patients, and multiple lesions were often associated with the NF-1. The histopathological analysis demonstrated that diffused neurofibromas occur more frequently than the plexiform type. However, one case of plexiform neurofibroma was detected in the oral mucosa as an isolated lesion non-associated with the NF-1. The indolent clinical behavior of isolated neurofibromas in the head and neck region and the absence of NF-1 association reinforce that sporadic lesion could be hyperplastic or hamartomatous rather than neoplastic in nature.