NEUROFIBROMATOSIS TYPE 1 INVOLVING THE UPPER MAXILLA, CASE REPORT

Abstract

Von Recklinghausen disease or neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a wide clinical expression, with manifestations ranging from multiple café-au-lait spots to severe functional and aesthetic complications affecting bone tissue and nerve. Oral manifestations of NF1 are rare. The relevance of this case lies in the fact that the disease rarely occurs in oral cavity. The patient was a 12-year-old boy with facial asymmetry caused by a swelling around the upper left jaw causing deformation. Intraorally, a tumor that completely occupies the vestibule was identified. Excisional biopsy of the lesion was performed, and results indicated neurofibroma plexiform and S-100 positivity. At the control, a favorable healing is observed, and the result is correlated with a clinical history: glaucoma causing blindness of left eye, palpebral fibroids, bilateral frontal neurofibromas, multiple periocular neurofibromas, and Von Recklinghausen disease diagnosis. The treatment of NF1 patients is difficult, which may be increased by the complications derived from deformations (and its resulting psychological problem), gliomas of the optic nerves (blindness), or the high risk of malignant transformation. Von Recklinghausen disease or neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a wide clinical expression, with manifestations ranging from multiple café-au-lait spots to severe functional and aesthetic complications affecting bone tissue and nerve. Oral manifestations of NF1 are rare. The relevance of this case lies in the fact that the disease rarely occurs in oral cavity. The patient was a 12-year-old boy with facial asymmetry caused by a swelling around the upper left jaw causing deformation. Intraorally, a tumor that completely occupies the vestibule was identified. Excisional biopsy of the lesion was performed, and results indicated neurofibroma plexiform and S-100 positivity. At the control, a favorable healing is observed, and the result is correlated with a clinical history: glaucoma causing blindness of left eye, palpebral fibroids, bilateral frontal neurofibromas, multiple periocular neurofibromas, and Von Recklinghausen disease diagnosis. The treatment of NF1 patients is difficult, which may be increased by the complications derived from deformations (and its resulting psychological problem), gliomas of the optic nerves (blindness), or the high risk of malignant transformation.