A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease. (13th October 2019) - Takeichi, T.; Matsumoto, T.; Nomura, T.; Takeda, M.; Niwa, H.; Kono, M.; Shimizu, H.; Ogi, T.; Akiyama, M.