Nevoid basal cell carcinoma syndrome
an analysis of four familial and two sporadic cases
DOI:
https://doi.org/10.5935/2525-5711.20160015Keywords:
congenital malformations, nevoid basal cell carcinoma syndrome, odontogenic keratocyst, ptch, skeletal anomalies.Abstract
The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with complete penetrance and variable expressivity. It is caused by mutations in the patched gene, mapped to chromosome 9q22.3-q31. Its characteristics include multiple basal cell carcinomas, odontogenic keratocysts, vertebral and rib anomalies, and intracranial calcifications. Here, we describe the features of 4 familial and 2 sporadic cases of the NBCCS.
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