Early diagnosis of nevoid basal cell carcinoma syndrome

Background. Nevoid basal cell carcinoma syndrome,or NBCCS, is a hereditary condition characterized by basal cell carcinomas, or BCCs; odontogenic kera tocysts, or OKCs; and skeletal abnormalities. The authors conducted this st udy to determine the early signs of NBCCS. Methods. The authors reviewed files from two Italian dental schools from Ja nuary 1980 to January 1995 to determine the early signs of NBCCS and the ag e at which patients were first examined. They re-examined all of the patien ts, using the diagnostic criteria for NBCCS. Results. The authors found 14 patients who fulfilled the criteria for diagn osis of NBCCS in five families. All of the patients were 16 years bf age or younger. In 11 cases (78 percent), the first sign of NBCCS in the patients was an OKC. The OKCs diagnosed in patients older than 13 years of age were large and characterized by widespread bone resorption. One Ii-year-old pat ient had six large OKCs. The authors also found a case of multiple OKCs in an 8-year-old patient. Only one patient showed BCCs. Conclusions. OKCs are often the first signs of NBCCS and can be detected in patients younger than 10 years of age. Our data suggest that OKCs arise ea rlier in patients who have NBCCS than in patients who do not have NBCCS. Th e patients' young ages explain the low incidence of BCCs in this study. Clinical Implications. The presence of multiple OKCs in a child or onset of BCC in a patient younger than 20 years of age should alert dentists to the possibility of the patient's having NBCCS.