Nevoid basal cell carcinoma syndrome (NBCCS) is rare multi-systemic disorder characterized by early onset of multiple basal cell carcinoma and odontogenic keratinocysts. In addition, palmar or plantar pits, ectopic calcification of the falx cerebri, skeletal abnormalities, and increased incidence of variety of tumors were also reported in NBCCS. NBCCS is a congenital disorder caused by PTCH1 gene mutation. To date, over 100 germline mutation in PTCH1 associated with NBCCS have been reported. A 9-year-old boy was referred with multiple odontogenic keratinocysts. He had past history of macrocephaly and developmental delay. Physical examination revealed several brownish elevated papules on the face. Histopathologic findings were consistent with superficial type of basal cell carcinoma. Calcification of the falx cerebri was founded through brain CT. Furthermore, genetic analysis founded a missense mutation that shows the nucleotide substitution c.317T>G, resulting in p.Leu106Arg in PTCH1 gene. The same mutation also founded in patient’s father. Through these characteristic clinical symptoms, radiologic findings and genetic analysis, patient was finally diagnosed as NBCCS.