Li Changxing, Chen Pingjiao, Li Zhijia, Wang Yajie, He Sijin, Shi Minglan, Wang Qi, Xu Meinian, Li Qian, Chen Hongyu, Zeng Kang, Liang Jingyao, Zhang Xibao
Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Provice, 510515, China.
Department of Dermatology, Shenzhen Hospital, Southern Medical University, Shenzhen, Guangdong Provice, 518100, China.
Photodiagnosis Photodyn Ther. 2020 Dec;32:101968. doi: 10.1016/j.pdpdt.2020.101968. Epub 2020 Aug 21.
This report describes a PTCH1 c.1804C > T (p.Arg602*) mutation causing a Chinese nevoid basal cell carcinoma syndrome (NBCCS) with multiple basal cell carcinoma (BCC) phenotype. Multiple modalities including microwave ablation, photodynamic therapy, and excision surgery have a good respond to the NBCCS. The current results broaden the spectrum of PTCH1 mutations responsible for NBCCS.
