YU-FENG HUANGHUI-WEN YANG2026-10-162026-10-162010-01-01Pure ID: 14972697Pure UUID: 9f1d1488-288d-4e83-a7b4-e280b0e7cd7310.1016/S1991-7902(10)60024-4https://www.scopus.com/pages/publications/78049317327https://scholars.csmu.edu.tw/handle/123456789/28773Nevoid basal cell carcinoma syndrome (also named Gorlin-Goltz syndrome) is a rare disease. Commonly seen features include multiple odontogenic keratocysts (OKCs), nevus-like basal cell carcinoma, and bifid ribs. Genetic alterations of the PTCH1 gene are associated with the disease. Herein, we report the case of a 15-year-old girl who presented with multiple OKCs, a bifid rib, ectopic calcification of the falx cerebri, and an arachnoid cyst of the cerebrum. No basal cell carcinoma was identified. In addition, a search for genetic alterations was performed on the patient. We identified a genetic mutation of C→T in exon 12 (c.1686 bp) and a G→C mutation in intron 13 (g.91665 bp) of the PTCH1 gene. Although a similar mutation in exon 12 was reported in a literature search, the mutation in intron 13 has not previously been reported. The patient has continued to be followed-up almost 3 years after the surgery with no recurrence of the OKCs or development of basal cell carcinoma.5enjournal article