Pathology
Radiographic Findings in the Jaws of Patients With Neurofibromatosis 1

https://doi.org/10.1016/j.joms.2011.06.204Get rights and content

Purpose

Neurofibromatosis 1 (NF1) is a neurocutaneous-skeletal disorder with variable phenotypic expression and an incidence of 1:3,000 worldwide. The objective was to characterize the NF1-related radiologic alterations found in the jaws of these patients.

Patients and Methods

In total, 102 patients with NF1 were included in the present study. Six patients had a plexiform neurofibroma in the craniofacial region.

Results

Radiologic abnormalities in the jaws were found in 29 of 102 patients with NF1, including 6 patients with plexiform neurofibroma in the head and neck region. The most common radiologic finding was enlargement of the mandibular canal. The most prominent skeletal deformities and alterations of varying severity were detected in the jaws of 6 patients with plexiform neurofibroma. In these patients, the skeletal deformities were seen on the side affected by the tumor and possibly caused by the tumor. In 1 patient, however, the skeletal changes were on the opposite side.

Conclusions

Radiologic abnormalities were found in 29 of 102 patients. The most significant findings were profound deformities of the mandible and maxilla in all 6 patients with plexiform neurofibroma, but not in the other patients. The facial bone deformities found in young patients did not progress markedly at older ages with cessation of the patients' growth.

Section snippets

Patients and Methods

One hundred two patients with NF1 (55 female patients 3 to 64 years old and 47 male patients 8 to 73 years old) were included in the present study. Six patients had plexiform neurofibroma of the craniofacial region. The patients were recruited into the study from patients attending the NF1 clinic at the Department of Dermatology, Turku University Central Hospital and from members of a Finnish organization of patients with NF. This resulted in participation of patients from all parts of Finland.

Results

Radiologic abnormalities were found in 29 of 102 patients with NF1, including 6 patients with plexiform neurofibroma in the head and neck area. The most common radiologic finding was enlargement of the mandibular canal (Table 1). In patients without plexiform neurofibroma, bilateral widening of the mandibular canal was seen in 11 of 96 patients and unilateral widening in 10 of 96 patients. In patients with plexiform neurofibroma, widening of the mandibular canal was seen on the side affected by

Discussion

Twenty-nine (13 female and 16 male) of 102 patients with NF1 had radiologic alterations in their jaws. In general, the alterations were more pronounced in patients with plexiform neurofibroma than in those without. Prominent deformities were detected in the mandible and maxilla of all 6 patients with plexiform neurofibroma. An extensive influence of the neurofibroma tumor on bone tissue was found in patient 5 whose large plexiform neurofibroma had markedly affected the development of facial

Acknowledgments

This research was supported by the Academy of Finland (J.P.) and Turku University Hospital EVO grants (J.P., R.-P.H., S.P.). The authors are thankful for the active participation of the patients in the study. The technical assistance of Kirsti Timonen, Flora Notach, and Taru-Maija Peltonen is greatly acknowledged.

References (12)

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