Nevoid basal cell carcinoma syndrome-case report and genetic study

作者：Huang Yu Feng; Chen Yi Juai; Yang Hui Wen^*

来源：Journal of Dental Sciences, 2010, 5(3): 166-170.

• mutation, nevoid basal cell carcinoma
• odontogenic keratocyst
• PTCH

Nevoid 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.

• 出版日期2010-9