Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene

The document described a 55-year-old woman with Nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome, who also had pronounced androgenic alopecia and a novel mutation in the PTCH1 gene (c.3475delC), which was not present in her unaffected sons. She had multiple basal cell carcinomas, odontogenic keratocysts, and other NBCCS-related conditions, with hair loss beginning in her teenage years and progressing to advanced alopecia in multiple scalp regions. Her father had severe androgenic alopecia without Gorlin syndrome, while her mother had Gorlin syndrome without hair loss. The study suggested that the mutated PTCH1 gene might exacerbate androgenic alopecia due to its role in the Sonic hedgehog signaling pathway, which is crucial for hair follicle development, implying that PTCH1 mutations could affect the hair cycle and worsen androgenic alopecia.