Abstract
Palmar plantar pustulosis (PPP) is a debilitating skin disorder that presents with painful pustules on the palms and soles. Disease drivers are poorly understood, as the rarity of PPP has hindered the ascertainment of substantial patient resources. Thus, the treatment of this condition remains an unmet clinical need. Here, we sought to illuminate the genetic determinants of PPP by carrying out the first exome-wide association study for this disease. We ascertained three independent resources, including a total of 1,066 cases and 317,369 controls, originating from the UK (APRICOT and PLUM studies), Finland (FinnGen project) and Norway (HUNT study).
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