NEUROFIBROMATOSIS TYPE 1

Publication date: January 2019

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Volume 127, Issue 1

Author(s): S. PALACIOS, D. KASHTWARI, S. BARGHAN

Background

Neurofibromatosis type 1 (NF1), a complex multisystemic disorder caused by a genetic mutation on chromosome 17, causes uncontrolled tumor growths (called neurofibromas) in the nervous system. There are numerous conditions and complications associated with this disorder, which can affect the skin, eye, muscle, bone, and nervous system. We are presenting 2 cases of NF1 evaluated by using advanced imaging modalities.

Clinical and Radiographic Findings

Case #1: 20-year-old female, who had been referred to our department at age 15 years for preradiation therapy dental screening. Computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography–CT (PET-CT) studies were performed, and they demonstrated aggressive invasive nasopharyngeal carcinoma, metastatic cervical and retropharyngeal lymphadenopathy, and numerous plexiform neurofibromas along the expected course of cranial nerves (CNs) VII, IX, X, XI, and XII, and along the peripheral path of CN V. Throughout the neck, the NFs virtually involved all of the cervical nerve root sheaths and extended to the mediastinum. Case #2: 53-year-old female, who presented to the University of Florida Emergency Department complaining of right facial swelling, pain, and hearing impairment. CT and MRI of the head were performed, and they demonstrated suspicious right preauricular thrombosis of an enlarged facial vein versus evolution of hematoma, multiple skin/subcutaneous NFs, plexiform NF in the distribution of the trigeminal nerve on the right side with related atrophy of the muscles of mastication, enophtalmos, and dysplasia of the skull base, mandible, and facial bones.

Definitive Interpretation

Neurofibromatosis type 1.

Discussion/Conclusions

Patients with NF1 are at risk of eventual development of malignancy. For this reason, patients with NF1 need to be evaluated periodically by multiple specialists, using advanced imaging modalities, and it is important for dental professionals to recognize this disorder and be proactive in its interdisciplinary management.

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