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.
Keywords: 5-aminolevulinic acid photodynamic therapy; Basal cell carcinoma; Excision; Microwave ablation; Nevoid basal cell carcinoma syndrome; PTCH1.
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