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CASE REPORT
Year : 2021  |  Volume : 24  |  Issue : 11  |  Page : 1755-1757

Mandibular neurofibroma with osseous deformities in a 3-year-old child with neurofibromatosis type 1: A case report presentation and diagnosis


1 Basic Dental Sciences, College of Dentistry, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia
2 Department of Oral Medicine and Diagnostic Science, College of Dentistry, King Saud University, Riyadh, Saudi Arabia
3 Oral and Maxillofacial Surgery, King Saud Medical Center, Riyadh, Saudi Arabia

Date of Submission06-Jul-2020
Date of Acceptance12-Mar-2021
Date of Web Publication15-Nov-2021

Correspondence Address:
Dr. M A Alsheddi
College of Dentistry, Princess Nourah Bint Abdulrahman University, Riyadh, 13415
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njcp.njcp_421_20

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   Abstract 


Neurofibromatosis type 1 (NF1) is a rare autosomal dominant genetic disorder. It is a multisystem neurocutaneous condition represented by multiple benign tumors of the nerves and skin known as neurofibromas and cafe' au lait spots. However, neurofibroma localized in the mandible is rare. We present a case of a 3-year-old, Egyptian girl with NF1. The girl presented with right mandibular swelling of undetermined duration and multiple hyperpigmented spots on the skin. This case report shows the important role of dentists, as demonstrated in the present case, in the diagnosis and management of this disease, since the diagnosis was made during dental consultation and subsequently managed by the team.

Keywords: Café-au-lait spots, mandibular neurofibroma, neurofibromatosis type 1


How to cite this article:
Aloyouny A Y, Albagieh H N, Alweteid A S, Alsheddi M A. Mandibular neurofibroma with osseous deformities in a 3-year-old child with neurofibromatosis type 1: A case report presentation and diagnosis. Niger J Clin Pract 2021;24:1755-7

How to cite this URL:
Aloyouny A Y, Albagieh H N, Alweteid A S, Alsheddi M A. Mandibular neurofibroma with osseous deformities in a 3-year-old child with neurofibromatosis type 1: A case report presentation and diagnosis. Niger J Clin Pract [serial online] 2021 [cited 2021 Nov 28];24:1755-7. Available from: https://www.njcponline.com/text.asp?2021/24/11/1755/330464




   Introduction Top


Neurofibromatosis type 1 (NF1) is a highly variable phenotype, typically characterized by cutaneous neurofibromas and café au lait spots, which is the hallmarks of NF1 in the skin.[1]

Neurofibromas are commonly occurred in the head area; however, it is comparatively rarely encountered in the maxilla and mandible.[2] In patients with NF1, mandibular involvement is relatively rare and a review of the literature yielded a few relevant cases. This report aims at presenting a neurofibroma involving the soft tissue and bone of the posterior region of the mandible in a 3-year-old child who was first diagnosed with NF1 in the dental clinic.


   Case Report Top


A 3-year-old Egyptian girl was referred to Oral Maxillofacial Surgery Department at King Saudi Medical City for evaluation of facial asymmetry and remarkable swelling due to a slow-growing mass of the right mandible of undetermined duration. Family history revealed that she had no immediate or distant relatives who were diagnosed with NF1.

Physical examination revealed the presence of Café au lait spots on the trunk, shin and knees of varying diameters [Figure 1]a, [Figure 1]b, [Figure 1]c. In addition, multiple freckles in the axillary and neck. Moreover, she had a slow-growing subcutaneous neurofibroma in the lower back [Figure 1]a and [Figure 1]b.
Figure 1: A 3-year-old girl with NF1 shows (a and b) a slowly growing subcutaneous neurofibroma in the lower back (white arrow). (c) facial asymmetry and remarkable swelling due to a slow-growing mass of the right body of the mandible

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Oral examination showed 3 cm × 4 cm mass involving the soft and hard tissue of the right body of the mandible and extending to the right ramus [Figure 1]c.

Contrast-enhanced coronal and axial CT scans show discrete numerous, low attenuation soft tissue masses, which encroached on pterygoid and masseter muscles of the right side with minimal uneven peripheral enhancement of soft masses. In addition, lateral bowing of right mandibular ramus with condylar neck lengthening on the same side was observed [Figure 2]a and [Figure 2]b.
Figure 2: Contrast enhanced (a) coronal and (b) axial CT scans obtained and showed discrete low attenuation soft tissue masses, which encroached on pterygoid muscles (blue arrows) and masseter muscle of the right side with minimal uneven peripheral enhancement of soft masses (red arrow heads). Also, lateral bowing of right mandibular ramus (white arrow) with condylar neck lengthening of the same involved side. Histopathological analysis shows (c) multiple thickened and tortuous nerve bundles (H and E, ×200). (d) The neoplastic cells are spindle with wavy nuclei within wire-like collagen fibers (H and E, ×400)

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Microscopic analysis of the excisional biopsy specimen of the oral mass was described as mature fibrous connective tissue with multiple thickened and tortuous nerve bundles. The neoplastic cells are spindle with wavy nuclei within a wire-like collagen [Figure 2]c and [Figure 2]d. These features were consistent with oral neurofibroma of plexiform type. Based on the clinical presentation and pathology report of the excisional biopsy of the oral lesion, the diagnosis of NF1 was made.


   Discussion Top


Neurofibromatosis is a rare genetic disorder that primarily affects the growth of neural tissues. NF1 is first described by von Recklinghausen in 1882,[3] and affects 1 in 3000 live birth; regardless of gender, race, age or ethnic background.[4] It is a multisystem heterogeneous autosomal dominant inherited disorder caused by mutations or deletions of the neurofibromin gene on chromosome 17 q11.2.[1] In patients with NF1, neurofibromas may involve any part of the body including cutaneous, mucous membrane and visceral tissues. The diagnosis of NF1 is based on the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference.[1] Neurofibromas are not uncommonly occurred in the head and neck areas; however, it is rarely encountered in the maxilla and mandible. In most of the reported cases, neurofibromas affect the soft tissue with the tongue being the most frequently affected follow by gingiva, palate, buccal mucosa and the floor of the mouth.[2] The diagnosis of the present case of NF1 was first made by the presence of neurofibromas in the body, oral cavity and the middle of the lower back, as well as, café-au-lait spots on the neck, and trunk.

Neurofibromas can lead to gingival thickening which is widely described in patients with NF1, with subsequent periodontitis, agenesis, impacted and supernumerary teeth. It can also affect the size of the crown and leads to orthodontic abnormalities. Moreover, the salivary glands can be affected by neurofibromas, particularly the parotid gland that can lead to hyposalivation, high dental caries risk and periodontal diseases in these patients. In addition, hyperpigmentation of the mucous membranes is often associated with pathologies of the oral mucosa.[4]

NF1 is a chronic and progressive disease with a wide range of severity. It is associated with many complications such as aesthetic deformities, psychological problems, gliomas of the optic nerves, learning disabilities, mental retardation, bone abnormalities, CNS tumors, and the high risk of malignant transformation.[5] Therefore, suspected NF1 patients should be monitored and treated under a multidisciplinary team to achieve an early diagnosis and to avoid complications. Also, they should have regular lifelong follow-up visits for early diagnosis and management of any complications.

This report emphasizes the important role of dentists in the diagnosis and treatment of NF1, as demonstrated in the present case, in which the diagnosis of the disease was made during dental consultation and subsequently managed by the dental team.


   Conclusion Top


Diagnosis of NF1, even though is clinical, is still challenging owing to its clinical complexity. However, features of NF1 summarized in this review could help increase awareness among healthcare providers including dentists, and lead to accurate early diagnosis and provide patients and their families with optimal management and counseling.

”The manuscript has been read and approved by all the authors, and that the requirements for authorship as stated earlier in this document have been met, and that authors believe that the manuscript represents honest work.”

Acknowledgment

This research was funded by the Deanship of Scientific Research at Princess Nourah bint Abdulrahman University through the Fast-track Research Funding Program.

Consent

”A written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.”

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.
Visnapuu V, Peltonen S, Alivuotila L, Happonen RP, Peltonen J. Craniofacial and oral alterations in patients with Neurofibromatosis 1. Orphanet J Rare Dis 2018;13:1-9.  Back to cited text no. 1
    
2.
Shapiro SD, Abramovitch K, Van Dis ML, Skoczylas LJ, Langlais RP, Jorgenson RJ, et al. Neurofibromatosis: Oral and radiographic manifestations. Oral Surg Oral Med Oral Pathol 1984;58:493-8.  Back to cited text no. 2
    
3.
Ruggieri M. The different forms of neurofibromatosis. Child's Nerv Syst 1999;15:295-308.  Back to cited text no. 3
    
4.
Javed F, Ramalingam S, Ahmed HB, Gupta B, Sundar C, Qadri T, et al. Oral manifestations in patients with neurofibromatosis type-1: A comprehensive literature review. Crit Rev Oncol Hematol 2014;91:123-9.  Back to cited text no. 4
    
5.
Tolentino E de S, Souza Pinto GN de, Maciel L, Soares CT, Lara VS, Moreschi ARC. Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: Delayed diagnosis and the importance of the multidisciplinary approach. Oral Surg Oral Med Oral Pathol Oral Radiol 2019;128:e108-12.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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