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

Abstract

We read with great interest the article by Pavlovsky et al;¹ describing PSENEN mutations associated with hidradenitis suppurativa-Dowling Degos Disease (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 Dowling Degos Disease.² Decreased Notch activity is associated with mutations in POFUT1.

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