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CASE REPORT
Year : 2009  |  Volume : 21  |  Issue : 1  |  Page : 32-36 Table of Contents   

Multiple intraoral neurofibromas: Case report and review of the literature


Department of Oral Medicine and Radiology, Meenakshi Ammal Dental College, Alapakkam Main Road, Maduravoyal, Chennai, India

Date of Web Publication14-Nov-2009

Correspondence Address:
C Krithika
Department of Oral Medicine and Radiology, Meenakshi Ammal Dental College, Alapakkam Main Road, Maduravoyal, Chennai-600 095
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.57776

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   Abstract 

Neurofibromatosis type I (NF I) is an autosomal dominant disease transmitted with a high degree of penetrance. The disease is expressed in different forms. NF I accounts for almost 90% of the cases although nine types have been described to date. We report one such case of a 40-year-old male who presented with multiple nodules on the body and multiple intraoral soft tissue swellings. He was diagnosed to have NF I, having satisfied the diagnostic criteria for the same. This paper highlights the clinical features and diagnostic criteria of NF, the prevalence and the significance of intraoral neurofibromas and the need for the general practitioner to be aware of this condition.

Keywords: Cafe au lait, intraoral neurofibroma and neurofibromatosis


How to cite this article:
Krithika C, Deshpande A, Koteeswaran D, Gopal S. Multiple intraoral neurofibromas: Case report and review of the literature. J Indian Acad Oral Med Radiol 2009;21:32-6

How to cite this URL:
Krithika C, Deshpande A, Koteeswaran D, Gopal S. Multiple intraoral neurofibromas: Case report and review of the literature. J Indian Acad Oral Med Radiol [serial online] 2009 [cited 2019 Apr 20];21:32-6. Available from: http://www.jiaomr.in/text.asp?2009/21/1/32/57776


   Introduction Top


Neurofibromas are the hallmark of neurofibromatosis (NF). NF is a well-documented hereditary condition characterized by multiple cafι au lait spots, neurofibromas and skeletal changes. Two major forms are recognized, with seven other subtypes. Affected patients need regular follow-up. Genetic and psychological counseling should be provided. [1],[2],[3] Intraoral neurofibromas, although uncommon, deserve special attention because of their similarity with other inflammatory and neoplastic conditions and their propensity to undergo malignant transformation.


   Case Report Top


A 40-year-old male patient reported to the Department of Oral Medicine and Radiology with the chief complaint of a swelling in the palate for the last 3 years. History revealed that the patient noticed the swelling 3 years ago and it had been constant in size and had remained painless since then. He was an orphan with no information about his family. On general examination, multiple nodules of various sizes were noticed all over the body [Figure 1],[Figure 2],[Figure 3],[Figure 4]. The patient had kyphosis. He also had about 10 brownish macules measuring between 1.5 and 2 cm in diameter over his chest, arms and thighs with freckling in the axilla [Figure 5].

Intraorally, three nodules were noticed in the middorsum of the tongue [Figure 6]. Three more nodules were seen in the anterior palate. A large diffuse swelling measuring about 3 Χ 3 cm was seen in the left side of the palate [Figure 7]. All the lesions were diffuse, firm and non-tender, with no secondary changes. Although the patient was asymptomatic, he was concerned about the nature of the swellings.

Based on the history and the clinical presentation, we gave a provisional diagnosis of NF associated with multiple intraoral neurofibromas. The patient was then subjected to various investigations. Radiograph of the spine revealed lateral curvature of the spine, suggestive of scoliosis [Figure 8]. Radiographs of the forearm revealed thinning of the long bones [Figure 9]. Intraoral periapical radiographs and occlusal radiographs did not reveal any significant abnormality. The orthopantamogram revealed enlarged mental foramina, enlarged mandibular canals, deep coronoid notch and elongated condyles on both sides [Figure 10]. The computerized tomography (CT) scan of the brain was normal. Axial CT section at the level of the palate showed a soft tissue hypodense lesion on the left side in relation to 23, 24 and 25 [Figure 11]. No evidence of bone destruction was seen. This correlated with our clinical finding of a diffuse swelling in that area. A biopsy was then taken from the palatal swelling and subjected to histopathological examination to ascertain the nature of the intraoral swelling. The section showed a hyperkeratotic epithelium with areas of irregularly arranged nerve fascicles in the connective tissue [Figure 12]. A histopathological diagnosis of a neurofibroma was given.

Correlating the clinical features and the histopathology report, we arrived at a final diagnosis of Von Recklinghausen's disease associated with multiple intraoral neurofibromas. The patient did not want surgical excision of the lesions for cosmetic or functional reasons and he was therefore asked to report for a periodic follow-up.


   Discussion Top


NF is transmitted as an autosomal dominant disease, which is shown to be related to a mutation in the pericentric proximal gene locus on chromosome 17. About one half of all the cases are hereditary while the other half is thought to be due to a spontaneous mutation. [1] The pathogenesis is thought to be due to neurofibromin, the NF1 gene product, which is a tumor suppressor that dampens products or ras protooncogenes and its loss may contribute to tumor progression when gene mutation occurs. [4]

Holt [2] defined neurofibroma as a "hereditary hamartomatous disorder, probably of neural crest origin, involving not only neuroectoderm but also endoderm, with the potential of appearing in any organ system of the body." It may be considered that NF may include a spectrum of diseases ranging from hamartomas of neural and various mesodermal tissue to benign or malignant neoplasm. [3] NF I, also known as Von Recklinghausen's disease, is one of the most common autosomal dominant inherited disorders, with an incidence of one in 3000. [5]

It has been reported in all races, with no definite sex predilection.

The condition has been typically described as numerous sessile or pedunculated, elevated smooth-surfaced nodules of variable size scattered all over the skin surface or may also be seen as deeper and more diffuse lesions. [6],[7] Lesions may or may not be well circumscribed. [6] Twenty to 30% of them have axillary freckling. [8]

Enlargement of fungiform papillae was the most common oral finding (53%), followed by intraoral neurofibromas (26%). [8] Intraorally, the tongue, lips, palate, buccal mucosa, gingival and floor of the mouth are commonly involved. [9]

Criteria for diagnosis of NF have been proposed by the National Institute of Health Consensus Development Conference in 1988. [10] The diagnostic criteria are met if the patient has two or more of the following features:

  1. Six or more cafι au lait macules over 5 mm in pre-pubertal persons and over 15 mm in greatest diameter in post-pubertal persons.
  2. Two or more neurofibromas of any type or one plexiform neurofibroma.
  3. Freckling in the axillary or inguinal regions.
  4. Two or more Lisch nodules (Iris nodules).
  5. A distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudoarthrosis.
  6. A first-degree relative (parent sibling or offspring) with NF I, based on the above criteria. [1],[8]
The concept of plexiform neurofibroma being highly suggestive of NF type I had been contraindicated by others who held that they are not pathognomonic, as claimed. [11]

Over 50% of the patients manifest the disease in the first year of life, with cafι au lait spots being the first manifestation. [12] The cafι au lait macules have a smooth outline like the "coast of Florida" [6] in contrast to the cafι au lait macules seen in polyostotic fibrous dysplasia. [13]

Some of the most common radiographic changes that have been reported are enlarged mandibular foramen (78%), increased coronoid notch (70%) and increase in bone density (88%) to name a few. [3]

Histologically, the neurofibromas occurring in NF show the same features as a solitary neurofibroma except that usually no distinct margin is found between the neurofibroma and the surrounding tissue. The histological appearance exhibits considerable variation but is generally composed of a proliferation of delicate spindle cells with thin, wavy nuclei intermingled with neurites in an irregular pattern as well as delicate, intertwining connective tissue fibrils. [14] Fifty-eight percent of the neurofibromas are positive for S-100 protein by immunohistochemical staining. [15]

There is no satisfactory or specific treatment for NF. The treatment is often directed toward prevention or management of complications. Surgical removal is attempted only for functional or cosmetic reasons. Surgical removal may result in recurrence and multiple recurrences have been associated with malignant transformation. [8],[16] A higher rate of recurrence is seen in the head and neck region. [17]

Neurofibroma associated with Von Recklinghausen's disease has a greater potential for malignant transformation (5-16%). These tumors undergo malignant changes at a higher rate than that observed for comparable tumors in the general population. [18] This neurofibrosarcomatous change has an extremely poor prognosis and distant metastasis is common. [9]

A pre-natal diagnosis may be possible through DNA mutation analysis if the defect is known. [2] Genetic counseling is essential with a psychologist's evaluation. Instilling confidence is necessary to reduce their mental agony and suffering and help them improve their quality of life.

Oral lesions may sometimes become large enough to interfere with functions of mastication and speech and may even ulcerate to cause significant disturbance to the patient and hence the general dentist should be aware of the clinical presentation of this condition. Also, a clinician should keep in mind the occurrence of intraoral neurofibromas and should be competent to differentiate it from other common inflammatory swellings. It is also imperative to put these patients on a long-term follow-up protocol to detect any possible signs of malignant transformation at the earliest.

 
   References Top

1.Marx RE, Stern D. Benign Soft Tissue Tumors of Mesenchymal Origin. Oral and Maxillofacial Pathology: A rationale for diagnosis and treatment. Quintessence Publishing Co, Inc; 2003. p. 414-9.  Back to cited text no. 1      
2.Holt JF. Neurofibromatosis in children. AJR Am J Roentgenol 1978;130:615-39.  Back to cited text no. 2      
3.Lee L, Yan YH, Pharoah MJ. Radiographic features of the mandible in neurofibromatosis: A report of 10 cases and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1996;81:361-7.  Back to cited text no. 3      
4.Joel L Spitz. Genodermatoses: A clinical guide to genetic skin disorders 2/e. Lippincott Williams and Wilkins Inc; 2007. p. 167-8.  Back to cited text no. 4      
5.Gόneri EA, Akoπlu E, Sόtay S, Ceryan K, Saπol O, Pabuηcuoπlu U. Plexiform neurofibroma of the tongue: A case report of a child. Turk J Pedediatr 2006;48:155-8.  Back to cited text no. 5      
6.Regezi JA, Sciubba JJ, Jordan KC. Oral Pathology: Clinical and Pathologic Correlations. 5 th ed. Elsevier; 2008. p. 170 -2.  Back to cited text no. 6      
7.Greenberg MS and Glick M. Burket's - Oral Medicine, Diagnosis and Treatment. 10 th ed. BC Decker Inc; 2003. p. 168-71.  Back to cited text no. 7      
8.Patil K, Mahima VG, Shetty SK, Lahari K. Facial plexiform neurofibroma in a child with neurofibromatosis type I: A case report. J Indian Soc Pedod Prev Dent 2007;25:30-5.  Back to cited text no. 8  [PUBMED]  Medknow Journal  
9.Neville BW, Hann J, Narang R, Garen P. Oral neurofibrosarcoma associated with neurofibromatosis type I. Oral Surg Oral Med Oral Pathol 1991;72:456-61.  Back to cited text no. 9      
10.National Institutes of Health Consensus Development Conference statement. Neurofibromatosis conference statement. Arch Neurol 1988;45:575-80.  Back to cited text no. 10      
11.Rajendran R. Plexiform neurofibroma of the gingiva: Report of a rare case. J Oral Maxillofac Pathol 2006;10:28-30.  Back to cited text no. 11    Medknow Journal  
12.Chasteen JE, Oda D. Plexiform neurofibroma clinically consistent with neurofibromatosis type I: A case report. Rev de Clin Pesq Odontol 2005;1:15-21.  Back to cited text no. 12      
13.Neville WB, Damm DD, Allen CM, Bouquot JE, editors. Oral and Maxillofacial Pathology. Philadelphia: WB Saunders Company; 1995. p. 380-1.  Back to cited text no. 13      
14.Rajendran R and Sivapathasundaram B. Shafer's Textbook of Oral and Maxillofacial Pathology. 5 th ed. Elsevier 2006. p. 279-82.  Back to cited text no. 14      
15.Gσmez-Oliveira G, Fernαndez-Alba Luengo J, Martνn-Sastre R, Patiρo-Seijas B, Lσpez-Cedrϊn-Cembranos JL. Plexiform neurofibroma of the cheek mucosa: A case report. Med Oral 2004;9:263-7.  Back to cited text no. 15      
16.Wise JB, Patel SG, Shah JP. Management issues in massive pediatric facial plexiform neurofibroma with neurofibromatosis type I. Head Neck 2002;24:207-11.  Back to cited text no. 16      
17.Cunha KS, Barboza EP, Diaz EP, Oliveria FM. Neurofibromatosis type I with periodontal manifestation: A case report and literature review. Br Dent J 2004;196:457-60.  Back to cited text no. 17      
18.Oxford Handbook of Clinical Medicine. 7 th ed. Oxford University Press Inc; 2007. p. 506-7.  Back to cited text no. 18      


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12]



 

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