Aim: The aim of this study was to determine the malformations of the maxillary sinus in neurofibromatosis type 1 patients (NF1).
Material and methods: Twenty-two patients with NF1 were investigated clinically and radiologically: 11 had an unilateral trigeminal plexiform neurofibroma and 11 had multiple cutaneous neurofibromas. The histological type of NF was ascertained in all cases following tumor resections. The malformation of the maxillary sinus was assessed on plain radiographs and computed or magnetic resonance tomograms. Intraindividual side comparison was used to judge the size of the sinus and its position in the midface.
Results: In patients with cutaneous neurofibromas the maxillary sinus appeared symmetrical in size and position. The pneumatization of the sinus had no abnormalities on the radiographs. Malformations of the maxillary sinus were restricted to plexiform neurofibromas. On the side affected by a plexiform NF, the sinus appeared hypoplastic and caudally displaced due to an enlarged ipsilateral orbit. The expansion of the sinus to the lateral side was impaired, obviously due to tumor masses. Consecutively, the alveolar process of the affected side was also displaced leading to a complex malocclusion.
Discussion: Malformations of the face are frequently presented as case reports in the literature. Emphasis is given to the elephantiasis-like tumor growth of the face in certain patients with NF1. The underlying pathology has not yet been fully understood. This report provides evidence that in the midfacial region the overgrowth is predominantly caused by the plexiform neurofibroma itself and that the bones can even be hypoplastic and show scoliosis-like malformation compared to the nonaffected side. These findings are relevant when debulking procedures of the face are planned for NF1 patients.