Reinhard E Friedrich1. 1. Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany r.friedrich@uke.de.
Abstract
UNLABELLED: Nevoid basal cell carcinoma syndrome (NBCCS) is a predisposition to a rare tumor type with a variable phenotype. Besides tumors, skeletal alterations, such as bifid ribs or frontal bossing constitute the phenotype. Recently, a variant of the first cervical vertebra, the ponticulus posticus, was reported to occur in 50% of patients with NBCCS as revealed by analysis of lateral cephalograms. MATERIALS AND METHODS: Lateral cephalograms of eight patients with NBCCS were studied for the presence of ponticulus posticus. RESULTS: The ponticulus posticus was present in all patients. In one case, a series of cephalograms performed during a period of 20 years allowed the slow and continuous recording of a ponticulus posticus formation. DISCUSSION: Besides the predisposition to developing neoplasms, NBCCS also affects bone development. Some diagnostic criteria for NBCCS rely on certain osseous transformations either in hard tissues, e.g. keratocystic odontogenic tumor in jaws, or in soft tissues, e.g. calcification of the falx cerebri. Furthermore, the physiognomy can be affected by skeletal alterations, e.g. frontal bossing or hypertelorism. Given this wide spectrum of osseous involvement in NBCCS, the high prevalence rate of ponticulus posticus should be added to the relevant diagnostic findings of the skull and vertebral column. However, the onset of ponticulus posticus formation in the life of such patients is unclear and thus the relevance of this finding in early diagnosis of NBCCS remains to be elucidated. Copyright
UNLABELLED: Nevoid basal cell carcinoma syndrome (NBCCS) is a predisposition to a rare tumor type with a variable phenotype. Besides tumors, skeletal alterations, such as bifid ribs or frontal bossing constitute the phenotype. Recently, a variant of the first cervical vertebra, the ponticulus posticus, was reported to occur in 50% of patients with NBCCS as revealed by analysis of lateral cephalograms. MATERIALS AND METHODS: Lateral cephalograms of eight patients with NBCCS were studied for the presence of ponticulus posticus. RESULTS: The ponticulus posticus was present in all patients. In one case, a series of cephalograms performed during a period of 20 years allowed the slow and continuous recording of a ponticulus posticus formation. DISCUSSION: Besides the predisposition to developing neoplasms, NBCCS also affects bone development. Some diagnostic criteria for NBCCS rely on certain osseous transformations either in hard tissues, e.g. keratocystic odontogenic tumor in jaws, or in soft tissues, e.g. calcification of the falx cerebri. Furthermore, the physiognomy can be affected by skeletal alterations, e.g. frontal bossing or hypertelorism. Given this wide spectrum of osseous involvement in NBCCS, the high prevalence rate of ponticulus posticus should be added to the relevant diagnostic findings of the skull and vertebral column. However, the onset of ponticulus posticus formation in the life of such patients is unclear and thus the relevance of this finding in early diagnosis of NBCCS remains to be elucidated. Copyright