Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder

Abstract excerpt

Dear Editor, We read with great interest the article by Pavlovsky et al.1 describing PSENEN mutations associated with hidradenitis suppurativa (HS) with Dowling–Degos disease (DDD) (HS‐DDD) and suggesting a role for Notch signalling in the pathogenesis of this disorder. The literature also describes mutations in the POFUT1 gene as causative genetic defects in DDD.2 Decreased Notch activity is associated with...

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