CASO CLÍNICO

 

Type I neurofibromatosis with periodontal and lingual manifestations: a case report

Neurofibromatosis tipo I con manifestaciones en el periodonto y lengua: presentación de un caso

 

 

M.C. Negreiros Lyrio¹, F.R. Loureiro Sato², H. Montagner³, J.L. Muñante Cardenas⁴, M. de Moraes⁵

¹ Alumna de Maestria en Cirugía y Traumatología Buco-maxilo-facial de la Faculdad de Odontología de Piracicaba – Universidad Estadual de Campinas (FOP-UNICAMP)
² Alumno de Maestria en Cirugía y Traumatología Buco-maxilo-facial de la Faculdad de Odontología de Piracicaba – Universidad Estadual de Campinas (FOP-UNICAMP)
³ Cirujano-Dentista, pasante del Área de Cirugía y Traumatología Buco-maxilo-facial de la Faculdad de Odontología de Piracicaba – Universidad Estadual de Campinas (FOP-UNICAMP)
⁴ Cirujano-Dentista, pasante del Área de Cirugía y Traumatología Buco-maxilo-facial de la Faculdad de Odontología de Piracicaba – Universidad Estadual de Campinas (FOP-UNICAMP)
⁵ Profesor Asociado del Área de Cirurgía y Traumatologia Buco-Maxilo-Facial. Facultad de Odontología de Piracicaba – Universidad Estadual de Campinas (FOPUNICAMP)

Correspondence

 

 

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ABSTRACT

Von Recklinghausen’s disease, or type I neurofibromatosis (NF-1), is an autosomal dominant condition with a varied clinical expression. Disease manifestations may range from café au lait spots of the skin to severe cosmetic and functional complications that affect bone and nervous tissues. Oral manifestations of NF-1 are common, affecting approximately 72% of patients. We report a case of NF-1 with neurofibromatous lesions of the lower alveolar bridge and tongue. Resection was indicated due to the difficulty of maintaining oral hygiene.

Key words: Neurofibromatosis; Von Recklinghausen’s disease; Gingival hyperplasia; Tongue.

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RESUMEN

La enfermedad de Von Recklinghausen o Neurofibromatosis Tipo I (NF1) es una condición autosómica dominante que presenta una variada expresión clínica, con manifestaciones que van desde manchas tipo café con leche en piel a severas complicaciones estéticas y funcionales afectando los tejidos óseos y nerviosos. Las manifestaciones orales de la NF1 son comunes, afectando aproximadamente al 72% de los pacientes. Presentamos un caso de NF1 con lesiones neurofibromatosas afectando al reborde alveolar inferior y lengua, con indicación de excisión quirúrgica debido a la dificultad de higiene local.

Palabras clave: Neurofibromatosis; Enfermedad de Von Recklinghausen; Hiperplasia gingival; Lengua.

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Introduction

The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cellular growth of neural tissues. At least 8 forms of NF exist. The two main forms are type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis (NF-2).¹

Type 1 neurofibromatosis (NF-1), also known as Von Recklinghausen’s disease, is the most common type.¹ It is a relatively frequent genetic anomaly, with a prevalence of 1:3000 births reported in the literature.² NF-1 shows no predilection for race or sex.^1,3 Inheritance is autosomal dominant, although 50% of patients do not have a family history and correspond to sporadic mutations.

NF-1 is characterized by cutaneous, nervous, skeletal, and oral manifestations.⁶ It is associated mainly with the presence of café au lait spots on the skin and skin nodules. Axillary freckling (Crowe sign) and translucent, chestnut-colored pigmentation of the iris, known as Lisch nodules, are found in almost all affected individuals.⁵ Skeletal anomalies have been reported, such as mandibular hypoplasia and widened mandibular canal.⁶

Oral manifestations are found in up to 72% of patients with NF-1,⁷ the most common being an increase in the fungiform papillae of the tongue.⁵ Isolated, unulcerated, asymptomatic nodules of the same color as the mucosa are frequent and are located in the palate, cheek mucosa, vestibule, or tongue. Involvement of the alveolar mucosa is rare, being found in only 5% of cases.⁷ Macroglossia is produced by diffuse tongue involvement.^3,8 Facial asymmetry is present in 10% of patients and is characterized by hypoplasia of the facial skeleton.

The diagnosis of neurofibromatosis is eminently clinical because the application of diagnostic criteria generally yields the diagnosis.

At present, there is no specific treatment for neurofibromatosis. Therapeutic strategies consist of clinical support or surgery to excise neurofibromatous lesions that interfere with function or cosmetic appearance, or present an evident risk of malignization.

We report the case of a patient with NF-1 and lesions that affected the alveolar gingival mucosa in the anterior region of the jaw and tongue. The lesion of the alveolar rim had to be removed because it interfered with oral hygiene.

 

Clinical case

The patient EJO, a brunette, 23-year-old woman, was referred to the Buco-Maxillo-Facial Surgery Department of the Piracicaba School of Odontology (FOP/UNICAMP) for resection of a lesion in the lingual region of the anterior lower arch. The patient had been clinically diagnosed of neurofibromatosis.

The physical examination disclosed facial asymmetry and hundreds of skin nodules scattered over her body, including the face and neck (Fig. 1). Café au lait spots were present on the trunk and upper limbs (Fig. 2).

The intraoral examination showed poor occlusion, diastemata, missing teeth, and a mass of neurofibromatous appearance of the lower alveolar bridge on the lingual face of the incisor area. The lesion was firm and painless on palpation, of normal mucosal color, not ulcerated, had a sessile base, and was almost 2.5 cm in diameter (Fig. 3). Due to the size of the nodule and its relation with the teeth, it interfered with oral hygiene and predisposed to plaque accumulation. The tongue was enlarged and contained a diffusely limited neurofibromatous lesion (Fig. 4).

On radiographic examination, retention of element 23 and right mandibular hypoplasia were observed (Fig. 5).

The strategy adopted for the neurofibromatous lesion present on the anterior lower dental arch was surgical excision. The lesion in the lingual region was not treated surgically because it did not impair the function or cosmetic appearance of the patient. The diagnosis of neurofibromatosis was confirmed by histopathologic analysis (Fig. 6).

The patient underwent six months of postoperative follow- up without registering any complaints or apparent signs of recurrence of the lesion. The patient is presently receiving periodontal treatment and the condition of the local support tissues has improved (Fig. 7).

 

Discussion

Many of the features of neurofibromatosis were observed in the present clinical case, such as cutaneous, skeletal, and oral anomalies. Cutaneous manifestations included nodules and café au lait spots over the body, face, and neck of the patient. This was the basis for the diagnosis of type 1 neurofibromatosis. ⁵

The oral manifestations are well known, but neurofibromatosis often cannot be differentiated from other histologic abnormalities of the oral mucosa.^12-14 The frequency of oral manifestations is debated in the literature. Some authors report a frequency of 4-7% of cases,³ whereas others suggest that these manifestations are present in up to 72% of cases.^7,9 Isolated, unulcerated nodules of the same color as the mucosa are detected during the intraoral clinical examination. Intraoral lesions generally are located on the cheek mucosa, palate, alveolar ridge, vestibule, and tongue.³ Lesions are asymptomatic⁸ and the tongue is described as the most affected structure,⁶ resulting in macroglossia. In the case reported, a neurofibroma was located in the anterior mandibular gingiva and a diffuse tongue lesion had caused macroglossia. As reported in the literature, the gingival location is rare, being found in a scant 5% of cases.⁸ Gingival lesions can be confused with periodontal disease,¹⁴ or cause periodontal disease, because tissue growth impedes access to dental surfaces and is an obstacle to proper oral hygiene.

Tooth loss, impaction, and dental malposition are common. ¹² Neurofibromas of the lingual surface of the incisor ridge can separate the teeth.⁷ These characteristics were also observed in our patient.

During the physical examination, facial asymmetry due to alterations in mandibular bone growth was observed. Bone involvement is common in patients with neurofibromatosis (51-71% of cases).¹¹ The radiographic findings in the maxillofacial region may reveal an enlarged mandibular foramen and canal, increased bone density, a widened coronoid notch,⁵ and radiolucent defects.^6,11 Bone hypoplasia and hyperplasia may be seen in the maxilla, mandible, and malar bones and temporomandibular joint, which cause facial asymmetry.⁷

The treatment of neurofibromatosis is little more than symptomatic because the disease is progressive. There is no specific treatment. ³ Therapy is designed to prevent or manage complications. 5 According to the literature, clinical follow-up should be conducted and surgery performed when the lesions compromise the patient’s function or cosmetic appearance.^6,7,8,12 In the present case, surgical treatment was chosen because of the dimensions of the lesion and its interference with proper oral hygiene. However, the lesion was not fully resected due to difficulties in establishing its limits. For Cunha,¹³ this makes surgery unsatisfactory. Bekisz¹⁵ claims that surgery should be performed only after the lesion has grown completely. This allows the lesion to be completely excised and reduces the risk of recurrence.

It was once thought that repeated surgical procedures were responsible for malignization of the lesions.⁸ Now it is known that this is not the case, which makes these procedures acceptable.^6,15 The risks, possible complications, and benefits of a surgical strategy must be considered before intervening.

Regardless of whether of not previous surgical procedures have been performed, malignization affects 5% of cases.⁵ When malignization occurs, the prognosis is unfavorable.³ Consequently, patients with neurofibromatosis must always be followed up clinically to evaluate the course of the disease.

 

Conclusions

Our patient had oral manifestations of neurofibromatosis, including an uncommon location of neurofibroma on the lingual face of the lower incisor arch. A surgical approach to oral lesions associated with neurofibromatosis allows function to be restored and makes correct oral hygiene possible, as in our case. Intraoral neurofibromas must always be followed up because of the risk of malignization or recurrence, in addition to functional or cosmetic impairment of the patient.

 

 

Correspondence:
Márcio de Moraes
Avenida Limeira, nº 901 – Caixa Postal 52
13414-903 Areião, Piracicaba/SP
Email: mmoraes@fop.unicamp.br

Recibido: 05.11.2007
Aceptado: 07.03.2008

 

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