One of the largest studies of Gorlin syndrome to date examined 103 individuals across Norway, providing a detailed look at the many ways the condition can present. Researchers confirmed substantial variation in Gorlin syndrome, including differences in BCCs, jaw cysts, and skeletal and eye findings. They also identified 21 previously unreported disease-causing variants in the PTCH1 gene.
The study also reported some findings that warrant further investigation. Researchers provided the first prevalence estimates for autism and epilepsy in Gorlin syndrome, with both observed more often in this cohort than in comparison data from the general Norwegian population. The researchers also documented hairy skin patches, a feature previously described only in case reports, and suggest that recognizing this feature could potentially help with earlier diagnosis.
Overall, the findings reinforce how much Gorlin syndrome can vary from person to person and highlight areas that need further study. The authors emphasize the importance of early diagnosis and individualized follow-up based on each person's symptoms.
Read the full study: Brandtzæg KH, et al. Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome. British Journal of Dermatology. 2026;194(2):264–272.