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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 8  |  Issue : 3  |  Page : 172-175

Type 1 neurofibromatosis with periodontal manifestations


1 Department of Oral Pathology and Microbiology, Chhattisgarh Dental College and Research Institute, Rajnandgaon, Chhattisgarh, India
2 Department of Orthodontics and Dentofacial Orthopedics, Chhattisgarh Dental College and Research Institute, Rajnandgaon, Chhattisgarh, India
3 Department of Oral Pathology and Microbiology, R R Dental College and Hospital, Udaipur, Rajasthan, India

Date of Web Publication7-Oct-2016

Correspondence Address:
Pramod Kumar
House No. 1, Shakti Nagar, Mal Godam Road, Etawah - 206 001, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0976-4003.191727

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  Abstract 

Neurofibromatosis type 1 (NF1) also known as von Recklinghausen's disease is an autosomal dominant disease transmitted with a high degree of penetrance. The disease is expressed in different forms. NF1 accounts for almost 90% of the cases although nine types have been described to date. We report one such case of a 36-year-old female who presented with multiple nodules on the body. He was diagnosed to have NF1, having satisfied the diagnostic criteria for the same. Oral manifestations can be found in almost 72% of NF1 patients. This case report highlights the clinical features and diagnostic criteria of NF1, the prevalence and the significance of intraoral neurofibromas and the need for the dental practitioner to be aware of this condition.

Keywords: Neurofibromas, neurofibromatosis, Von Recklinghausen's disease


How to cite this article:
Kumar P, Dhobley A, Kumar H, Jain S. Type 1 neurofibromatosis with periodontal manifestations. Indian J Dent Sci 2016;8:172-5

How to cite this URL:
Kumar P, Dhobley A, Kumar H, Jain S. Type 1 neurofibromatosis with periodontal manifestations. Indian J Dent Sci [serial online] 2016 [cited 2022 May 17];8:172-5. Available from: http://www.ijds.in/text.asp?2016/8/3/172/191727


  Introduction Top


The term neurofibromatosis (NF) is used to a group of genetic disorders that primarily affect the cell growth of neural tissues. There are two forms of NF.

  • NF type 1 (NF1) and
  • NF type 2 (NF2).[1],[2]


These two forms of NF have few common features, and they are caused by mutations on different genes.[2]

NF1, also known as von Recklinghausen's disease and is the most common type of NF and accounts for about 90% of all cases.[1] NF1 occurs with a frequency of about one in 4000 individuals.[3] NF1 is caused by mutations that affect the gene located at 17q11.2 chromosome (NF1-gene).[3],[4],[5]

Neurofibroma constitutes an important feature of NF1. Oral manifestations are fairly common and present in almost 72% of NF1 patients.[1] Here, we report a case of an NF1 patient with periodontal manifestation.


  Case Report Top


A 36-year-old female patient reported to the Department of Oral Medicine and Radiology with the chief complaint of mobility in her lower anterior teeth. Initially, mobility was minimal, but it gradually increases to the present grade. Due to mobility, the patient had difficulty in eating and chewing the food.

Patient's history revealed the presence of numerous sessile nodular lesions all over the skin. The patient noticed lesions when she was 9 years of age. Lesions primarily developed on the right forearms which were of very small size (~0.5 mm) and were few in number. Gradually, they increased to the present size and since 15 years they are the same size and number. The patient feels uncomfortable while lying down due to the presence of lesions. The patient also reported that number of cutaneous nodules increases during and after the pregnancy.

The general clinical examination revealed slight deviation of spine toward the left side (suggestive of scoliosis). Hundreds of soft tissue cutaneous nodules were present all over the body including face and neck [Figure 1]a,[Figure 1]b,[Figure 1]c,[Figure 1]d. Nodules were sessile, nonulcerated, nonpainful, and were of varying size, ranging from 0.5 to 5.0 cm in diameter. The color of skin over the nodules varies from normal to dark brown. On palpation, the consistency was variable, ranging from soft to firm. Numerous coffee brown color pigmented macules (café-au-lait spots) were present on the trunk, shoulder, back, upper and lower arms. The patient reported that some of the pigmented macules were present at birth while others appeared as the age of the patient advances [Figure 2]a,[Figure 2]b,[Figure 2]c,[Figure 2]d.
Figure 1: Clinical photograph showing numerous cutaneous nodules (a - on the face, b - on neck, c - - abdomen, and d - back).

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Figure 2: Clinical photograph showing the presence of café-au-lait macules on different areas. (a) Legs, (b) forearm, (c) on shoulder, and (d) on back.

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Intraoral examination of the patient revealed poor oral hygiene and many teeth with grade II and grade III mobility. There was no lesion present intraorally. All the teeth respond normally to electrical pulp tester.

The complete radiographic examination was done to rule out any other bone pathology and to evaluate periodontal status. Anterioposterior view of chest radiograph showed mild deviation of spine toward the left side (scoliosis), whereas lateral chest X-ray does not show any sign of forward bending of spine (kyphosis). Lateral skull view shows the presence of open sutures. Orthopantomogram shows a severe periodontal bone loss. Radiograph also shows widening of mandibular foramen and wide, funnel-shaped mandibular canal on the right side [Figure 3]a,[Figure 3]b,[Figure 3]c.
Figure 3: Radiographs. (a) Anteroposterior chest showed (scoliosis), (b) lateral skull shows the presence of open sutures, and (c) orthopentomogram showing a severe periodontal bone loss, widening of mandibular foramen and funnel-shaped mandibular canal on the right side.

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Based on the patient's history, general examination, intraoral examination, and radiographic examination, the provisional diagnosis of chronic generalized periodontitis in a patient of NF1 was given.

The lesions were clinically diagnosed as localized neurofibroma. An excisional biopsy was performed from a lesion present on flexor surface the left forearm.

Hematoxylin and eosin stain stained section show that the neoplasm was well circumscribed and nonencapsulated. It was composed of numerous bundles of spindle shaped cells with elongated and wavy nuclei and numerous fibroblasts. The cells were immersed in a stroma of delicate bundles of collagen fibers and a moderate amount of myxoid matrix. The connective tissue also contains scanty chronic inflammatory cells. The above features are suggestive of neurofibroma [Figure 4] and [Figure 5].
Figure 4: Low power photomicrograph showing numerous bundles of spindle-shaped cells with elongated and wavy nuclei and numerous fibroblasts (H and E, ×100).

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Figure 5: High power Photomicrograph showing numerous spindle-shaped cells with elongated and wavy nuclei, fibroblasts, and collagen fibers. The connective tissue also contains scanty chronic inflammatory cells (H and E, ×400).

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  Discussion Top


NF, an autosomal dominant disorder, was first described in 1882 by the German anatomopathologist von Recklinghausen.[2] The pathogenesis is thought to be due to neurofibromin, the NF1 gene product, which is a tumor suppressor gene.[6]

Criteria for diagnosis of NF1 have been proposed by the National Institute of Health Consensus Development Conference in 1988.[7] The diagnostic criteria are met if the patient has two or more of the following features:[1],[5],[8]





  • Six or more café-au-lait macules over 5 mm in prepubertal persons and over 15 mm in greatest diameter in postpubertal persons
  • Two or more neurofibromas of any type or one plexiform neurofibroma
  • Freckling in the axillary or inguinal regions
  • Two or more Lisch nodules
  • A distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudoarthrosis
  • A first-degree relative with NF1.


The concept of plexiform neurofibroma being highly suggestive of NF1 had been contraindicated by others who held that they are not pathognomonic as claimed.[9]

Over 50% of the patients manifest the disease in the 1st year of life, with café-au-lait spots being the first manifestation.[10] The café-au-lait macules have a smooth outline like the coast of Florida [11] in contrast to the café-au-lait macules seen in polyostotic fibrous dysplasia.[4]

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.[12]

Histologically, the neurofibromas occurring in NF1 show the same features as a solitary neurofibroma except that usually no distinct margin is found between the neurofibroma and the surrounding tissue.[13] Neurofibroma are benign complex tumors that arise from peripheral nerve sheaths and constitute one of the main manifestations of NF1. Solitary neurofibroma may occur in an individual who does not have NF1, but multiple neurofibroma tend to develop in a person with such a disease.[14]

Although the majority of neurofibromas in NF1 patients are benign neoplasias, there is a low percentage of malignant neoplasias that occur in these individuals. These neoplasias represent more serious complication of NF1. The most common malignancy seen in individuals affected with NF1 is the malignant peripheral nerve sheath tumor.[15]

The treatment of NF is little more than symptomatic because the disease is progressive. There is no specific treatment. Therapy is designed to prevent or manage complications.[4] 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.


  Conclusion Top


Oral lesions are fairly common in patient with NF1. They may sometimes become large enough to interfere with functions of mastication, speech, and may even ulcerate to cause significant disturbance to the patient. The general dentist should be aware of the clinical presentation of this condition to prevent complication and malignant transformation.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
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. 1
[PUBMED]  Medknow Journal  
2.
Bekisz O, Darimont F, Rompen EH. Diffuse but unilateral gingival enlargement associated with von Recklinghausen neurofibromatosis: A case report. J Clin Periodontol 2000;27:361-5.  Back to cited text no. 2
[PUBMED]    
3.
Viskochil D. Neurofibromatosis 1. Am J Med Genet (Semin Med Genet) 1999;89:v-viii.  Back to cited text no. 3
    
4.
Neville BW, Damm DD, Allen CM, Bouquot JE. Soft tissue tumors. Oral and Maxillofacial Pathology. 2nd ed. St. Louis: Saunders; 2009. p. 458-61.  Back to cited text no. 4
    
5.
Marx RE, Stern D. Benign soft tissue tumors of mesenchymal origin. Oral and Maxillofacial Pathology: A Rationale for Diagnosis and Treatment. Illinois, USA: Quintessence Publishing Co. Inc.; 2003. p. 414-9.  Back to cited text no. 5
    
6.
Spitz JL. Genodermatoses: A Clinical Guide to Genetic Skin Disorders. 2nd ed. New york: Lippincott Williams and Wilkins Inc.; 2007. p. 167-8.   Back to cited text no. 6
    
7.
Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575-8.  Back to cited text no. 7
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8.
Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:51-7.  Back to cited text no. 8
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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. 9
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10.
Chasteen JE, Oda D. Plexiform neurofibroma clinically consistent with neurofibromatosis Type I: A case report. Rev Clin Pesqui Odontol 2005;1:15-21.  Back to cited text no. 10
    
11.
Regezi JA, Sciubba JJ, Jordan KC. Oral Pathology: Clinical and Pathologic Correlations. 5th ed. St. Louis, Missouri: Elsevier; 2008.  Back to cited text no. 11
    
12.
Lee L, Yan YH, Pharoah MJ. Radiographic features of the mandible in neurofibromatosis: A report of 10 cases and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1996;81:361-7.  Back to cited text no. 12
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13.
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.  Back to cited text no. 13
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14.
Friedman JM, Gutmann DH, MacCollin M, Riccardi VM. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore: The Johns Hopkins University Press; 1999. Avaliable from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287094/. [Last accessed on 2016 Aug 15].  Back to cited text no. 14
    
15.
Cunha KS, Barboza EP, Dias EP, Oliveira 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. 15
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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