Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals

Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition tran smitted as an autosomal dominant trait with complete penetrance and variabl e expressivity. The syndrome is characterised by numerous basal cell carcin omas (BCCs), odontogenic keratocysts of the jaws, palmar and:;or plantar pi ts, skeletal abnormalities and intracranial calcifications. In this paper, the clinical features of 37 Italian patients are reviewed, J aw cysts and calcification of falx cerebri were the most frequently observe d anomalies, followed by BCCs and palmar;plantar pits. Similar to the case of African-Americans, the relatively low frequency of BCCs in the Italian p opulation is probably due to protective skin pigmentation. A future search based on mutation screening might establish a possible genotype-phenotype c orrelation in Italian patients.