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.
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.
Authors: Winnie Cung; Laura A Freedman; Nicholas E Khan; Elaine Romberg; Pamela J Gardner; Carol W Bassim; Andrea M Baldwin; Brigitte C Widemann; Douglas R Stewart Journal: Eur J Med Genet Date: 2015-09-08 Impact factor: 2.708