A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a genetically determined disorder in which multiple skin tumors indistinguishable from basal cell carcinoma, palmoplantar pits, malformation of other tissues such as cysts of the jaws, abnormalities of the ribs and vertebrae, and a variety of less common changes, including ectopic calcification, cerebral tumors and so on may be observed. The penetrance is almost 100% with variable expressivity. Because the symptoms may not be discernible in early life stage, the diagnosis of NBCCS is sometimes difficult. We describe a sporadic case of NBCCS with palmoplantar pits, skeletal abnormalities, and intracranial calcification. The patient showed a novel insertion mutation (1408_1409insGGCT) of PTCH1 gene.