5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation

Photodiagnosis Photodyn Ther. 2020 Dec:32:101968. doi: 10.1016/j.pdpdt.2020.101968. Epub 2020 Aug 21.

Abstract

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.

MeSH terms

  • Aminolevulinic Acid / therapeutic use
  • Basal Cell Nevus Syndrome* / drug therapy
  • Basal Cell Nevus Syndrome* / genetics
  • Carcinoma, Basal Cell*
  • Hamartoma Syndrome, Multiple
  • Humans
  • Mutation
  • Photochemotherapy* / methods
  • Photosensitizing Agents / therapeutic use

Substances

  • Photosensitizing Agents
  • Aminolevulinic Acid

Supplementary concepts

  • Basal cell carcinoma, multiple