Novel nicastrin mutation in hidradenitis suppurativa–Dowling–Degos disease clinical phenotype: more than just clinical overlap?

In familial hidradenitis suppurativa (HS), mutations in the genes encoding three subunits of the gamma secretase complex, presenilin-1 (PSEN1), presenilin enhancer (PSENEN) and nicastrin (NCSTN), have pointed to impaired Notch signalling as a pathogenic disease mechanism.