Nevoid Basal Cell Carcinoma Syndrome: Three Cases from the Same Family

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease caused by PTCH gene mutation. Despite sporadic cases and case series reported worldwide, few pedigrees have been described. In this report, we showed 3 cases from the same family, all presenting with multiple craniofacial basal cell carcinoma (BCC) and spot-like depressions of the palm, with or without mandibular cysts and metacarpal malformations. Whole-genome sequencing revealed heterozygous missense mutation of PTCH-1 gene (c.1526G>A) in these patients, led to a diagnosis of NBCCS. Early recognition of NCBBS is of great significance to avoid disease progression.