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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 26  |  Issue : 2  |  Page : 241-244

Oral manifestations in neurofibromatosis type I: A case report


1 Department of Oral Medicine and Radiology, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Karad, Maharashtra, India
2 Department of Oral Medicine and Radiology, Maharashtra Institute of Dental Science and Research, Latur, Maharashtra, India
3 Department of Conservative and Endodontics, HKE Dental College, Gulbarga, Karnataka, India

Date of Submission12-Aug-2014
Date of Acceptance10-Oct-2014
Date of Web Publication30-Oct-2014

Correspondence Address:
Ashwinirani Suragimath
Department of Oral Medicine and Radiology, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Karad - 415 110, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.143717

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   Abstract 

Neurofibroma is a benign peripheral nerve sheath tumor, which is one of the most frequent tumors of neural origin. The diagnosis of type 1 neurofibromatosis (NF-I) can be made if there is presence of a neurofibroma. Neurofibromatosis type 1 occurs due to an alteration in the long arm of chromosome 17 and is an autosomal dominant inherited disease. There is no family history of the disease in about 50% of the NF-I patients. NF-I is characterized by the presence of skin lesions (café-au-lait spots and neurofibromas), bone malformations, and central nervous system tumors. A series of clinical criteria decide the diagnosis of NF-I. This article reports a case of NF-I in a 61-year-old male patient with classical features.

Keywords: Café-au-lait spots, pedunculated swellings, neurofibroma


How to cite this article:
Suragimath A, Bijjargi SC, Sande AR, Patil VS. Oral manifestations in neurofibromatosis type I: A case report . J Indian Acad Oral Med Radiol 2014;26:241-4

How to cite this URL:
Suragimath A, Bijjargi SC, Sande AR, Patil VS. Oral manifestations in neurofibromatosis type I: A case report . J Indian Acad Oral Med Radiol [serial online] 2014 [cited 2019 Nov 12];26:241-4. Available from: http://www.jiaomr.in/text.asp?2014/26/2/241/143717


   Introduction Top


The term neurofibromatosis is used for a group of genetic disorders that primarily affect the growth of neural tissues. [1] First described in 1882, by the German anatomopathologist, von Recklinghausen, it is an autosomal dominant disorder that affects the bone, nervous system, soft-tissue, and the skin. [2] It is caused by a spectrum of mutations that affect the gene located on the 17q11.2 chromosome, known as the NF1 gene. [3] Only 50% of NF1 patients have a positive family history of the disease. The other 50% represent spontaneous mutations. [4]

At least eight different clinical phenotypes of neurofibromatosis have been identified and are linked to two genetic disorders. [2] NF1 occurs in approximately 2,500-3,300 live births, regardless of the race, age, sex or ethnic background. [2]

The major subtypes are:

  • Peripheral neurofibromatosis or neurofibromatosis type 1 (NF1).
  • Central neurofibromatosis or neurofibromatosis type 2 (NF2).
  • Segmental neurofibromatosis, which is limited to a single body region.


Diagnosis of neurofibromatosis is done when two or three features are present based on the criteria described by Gutman et al., which include:

  1. Six or more café-au-lait macules:
    1. Diameter ≥1.5 cm in post-pubertal individuals.
    2. ≥0.5 cm in pre-pubertal individuals.
  2. Two or more neurofibromas of any type or one plexiform neurofibroma.
  3. Multiple freckles in the axillary area or groin.
  4. Optic glioma.
  5. Two or more Lisch nodules (hamartomas of the iris).
  6. A distinct osseous lesion, such as:
    1. Sphenoid dysplasia.
    2. Thinning of the long bone cortex, with or without pseudoarthrosis.
  7. A first-degree relative (parent, sibling or offspring) who meets the above criteria for NF1.


The frequency of oral manifestations in neurofibromatosis varies between 4 and 7% to as high as 72%. [5] In a more recent study, the frequency of oral involvement was shown to be approximately 92%. [4] Intraorally, neurofibromas of the oral soft tissue have been reported, with the tongue being the most common site, which is usually macroglossic. [4],[5] The buccal mucosa, alveolar ridge, gingiva, lips, palate, floor of the mouth, and the pharyngomaxillary space can also be involved. [4],[6],[7] Enlargement of the fungiform papillae, an enlarged mandibular foramina, and intrabony lesions are the other features of neurofibromatosis. Hypoplasia of the orofacial complex including a hypoplastic maxilla, zygomatic bone, temporomandibular joint, and the ramus of the mandible are the other findings. Shortening of the ramus, notching of the inferior border of the mandible, and enlarged lingual openings are other hard tissue findings reported in literature. [8] Intraosseous involvement of a neurofibroma in NF-1 patients has been reported very rarely. Here, we report the case of a neurofibroma in a 61-year-old male patient located in the right retromolar region.


   Case Report Top


A 61-year-old male patient came with a complaint of loose teeth in the upper left back region of the mouth, since one month, and a growth in the lower right back region of the jaw, since two weeks. The patient revealed that the nodule was small in size initially and that it progressed to the present size without any associated symptoms. The family history of the patient revealed a presence of multiple nodules all over the body in his uncle. Extraoral examination showed multiple nodules of varying size all over the body, including the head and neck area, which were more concentrated on the back of the body. The nodules were sessile to pedunculated, soft and nontender, suggestive of a cutaneous neurofibroma [Figure 1] and [Figure 2]. Brownish macular pigmentations were seen on the body, eight to ten in number, the largest on the left shoulder area, which were irregular in shape, measuring about 2-3 cm in size, suggestive of café-au-lait spots [Figure 3]. This type of pigmentation was present on the neck and back also. Auxillary freckling and / or inguinal freckling was seen under the arms, suggestive of a Crowe sign. Pigmented lesions of the iris were seen, suggestive of Lisch nodules [Figure 4].
Figure 1: Facial photograph of the patient showing multiple nodules on the forehead and neck region

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Figure 2: Photograph showing multiple nodules on the chest and abdomen region including the arms

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Figure 3: Café-au-lait spot seen on the left shoulder area

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Figure 4: Photograph showing iris nodules in the right eye

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Intraorally, a solitary pedunculated growth was present in the right retromolar region measuring about 0.5 cm in size. The overlying mucosa appeared to be normal with no visible pulsations [Figure 5]. On palpation, the growth was nontender and firm in consistency. On the left side, in the upper and lower posterior regions, there was inflammatory gingival enlargement in relation to the buccal side of the teeth. There was generalized gingival recession with grade 3 mobility in teeth numbers 26 and 27. There was vertical mobility of tooth number 26, with the tooth moving in and out of the socket on application and release of vertical pressure on the tooth. On the basis of the history and clinical examination, a provisional diagnosis of chronic generalized periodontitis and type I neurofibromatosis were considered.
Figure 5: Intraoral picture showing nodular growth on the lower right retromolar region

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A radiographic examination, through an intraoral periapical (IOPA) radiograph of the 26 region showed external root resorption on the mesiobuccal root of 26 [Figure 6]. An intraoral periapical radiograph of the 45, 46, and 47 region showed a mesioangular impacted 48, with a well-defined pericoronal radiolucency, measuring about 1 cm, with a supernumerary tooth between 46 and 47 [Figure 7]. The mandibular right topographical occlusal view showed the presence of a radiopaque structure in the lingual aspect of 46 suggestive of an impacted supernumerary tooth. The orthopantomograph (OPG) showed a grossly destructed 17 and an ill-defined hazy radiolucency measuring about 0.5 × 0.5 cm in the periapical region of 46 and 26. All the third molars were impacted. There was also an impacted supernumerary fused tooth in relation to 34 and 35, and an impacted supernumerary tooth in relation to 46 and 47; 48 was completely embedded in the bone, which was surrounded by a well-defined pericoronal radiolucency, measuring about 1 cm in size. The radiolucency appeared to be arising from well below the cementoenamel junction (CEJ), suggestive of a benign tumor. The bilateral mandibular canals and foramen showed no changes [Figure 8]. A treatment of oral prophylaxis and polishing were done and oral hygiene instructions were given along with a prescription of 0.2% chlorhexidine mouthwash. The patient was recalled after 15 days and under general anesthesia, excision of the lesion from the right retromolar region (along with the intraosseous lesion) and extraction of 48 was done. The specimen was sent for histopathological examination, which reported it to be a neurofibroma (Von Recklinghausen's type I). Patient follow-up was done after two weeks and the postoperative surgical site showed satisfactory healing.
Figure 6: IOPA radiograph showing ill-defined radiolucency in the 26 region

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Figure 7: IOPA radiograph showing well-defined radiolucency involving the impacted 48

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Figure 8: Orthopantomograph showing impacted third molars and supernumerary teeth between 34 and 35, and 46 and 47

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   Discussion Top


Neurofibromatosis is characterized by multiple neurofibromas, café-au-lait spots and iris Lisch nodules. [4] The other features that can be associated with von Recklinghausen's neurofibromatosis are macrocephaly, short stature, seizures, hypertension, deafness, constipation, kyphoscoliosis, developmental and learning disorders, cosmetic disfigurement, and neurofibrosarcomas, among others. [9] In our patient, multiple neurofibromas, café-au-lait spots, and Lisch nodules were present. Cutaneous neurofibromas, which occur within the dermis and epidermis in neurofibromatosis type I patients are sessile, but become pedunculated at a later stage. They are reddish to bluish, soft, and usually not painful. In later stages of NF-I, these cutaneous neurofibromas may cover all areas of the body, including the hands and soles of the feet, which was noted in our case, with a positive family history.

In NF1, bone malformations such as kyphoscoliosis or pseudoarthrosis may appear, and the temporomandibular joint may also be involved. [10],[11] Skeletal involvement is present in almost 40% of the patients with NF1, scoliosis being the most common skeletal pathology, [12] which was not observed in our case. Intracranial nerves also can be involved in NF-I. Involvement of cranial nerves VII and IX results in decreased taste and gag reflexes. If cranial nerves V or VII are affected, the tongue can deviate to one side and the patient may experience altered sensation. [8] This has not been seen in our case. Hypoplasia of the maxilla, zygomatic process, and ramus has not been noted in our case. Patients with NF-1 should be reviewed regularly for early detection and appropriate management of any disease complications, such as, optic gliomas, which may cause visual loss or field defects. Regular intraoral examination should also be performed. Although extremely rare, one serious complication of neurofibromas is malignant transformation; hence, rapid growth or pain associated with the lesions must be biopsied immediately, to rule out a possible malignant transformation. Dentists must be aware of the characteristics of this disease and multidisciplinary monitoring is necessary for assessing the neurological complications or sarcomatous evolution at the earliest possible stage.

 
   References Top

1.
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. 1
    
2.
Gómez-Oliveira G, Fernández-Alba Luengo J, Martín-Sastre R, Patiño-Seijas B, López-Cedrún-Cembranos JL. Plexiform neurofibroma of the cheek mucosa. A case report. Med Oral 2004;9:263-7.  Back to cited text no. 2
    
3.
Friedman JM. Neurofibromatosis 1. Clinical Genetics. In: Friedman JM, Gutmann DH, MacCollin M, Riccardi VM, editors. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. 3 rd ed. Baltimore: Johns Hopkins University Press; 1999. p. 110-8.  Back to cited text no. 3
    
4.
D'Ambrosio JA, Langlais RP, Young RS. Jaw and skull changes in neurofibromatosis. Oral Surg Oral Med Oral Pathol 1988;66:391-6.  Back to cited text no. 4
    
5.
Smith DW. Recognizable Patterns of Human Malformation. 3 rd ed. Philadelphia: WB Saunders Co; 1982. p. 377-9.  Back to cited text no. 5
    
6.
Polak M, Polak G, Brocheriou C, Vigneul J. Solitary neurofibroma of the mandible: Case report and review of the literature. J Oral Maxillofac Surg 1989;47:65-8.  Back to cited text no. 6
    
7.
Watts PG, Theaker JM. A rare cause of maxillary enlargement: von Recklinghausen's neurofibromatosis. Br J Oral Maxillofac Surg 1986;24:452-8.  Back to cited text no. 7
    
8.
Arendt DM, Schaberg SJ, Meadows JT. Multiple radiolucent areas of the jaw. J Am Dent Assoc 1987;115:597-9.  Back to cited text no. 8
    
9.
Riccardi VM, Eichner JE. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. 1 st ed. Baltimore: John Hopkins University Press; 1986.p. 37-55.  Back to cited text no. 9
    
10.
Marx RE, Stern D. Oral and Maxillofacial Pathology: A Rationale for Diagnosis and Treatment. 2 nd ed. Illinois: Quintessence Publishing Co Inc; 2003. p. 422-7.  Back to cited text no. 10
    
11.
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. 11
    
12.
Hillier JC, Moskovic E. The soft-tissue manifestations of neurofibromatosis type 1. Clin Radiol 2005;60:960-7.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

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