Last updated on: 12.11.2023

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The term autoinflammatory keratinization disorders, AiKD, is used to describe a group of inflammatory keratinization disorders with defined genetic autoinflammatory pathomechanisms. Representative AiKDs are the different variants of generalized or localized pustular psoriasis. For this heterogeneous group of diseases, mutations/variants in five genes - IL36RN, CARD14, AP1S3, MPO and SERPINA3 - have been described as genetic predisposing factors. The pathogenic mechanisms triggered by the mutations/variants in these genes are all closely linked to excessive activation of the skin's innate immunity and autoinflammation.

In addition to pustular psoriasis generalisata, pityriasis rubra pilaris, (familial) keratosis lichenoides chronica (mutations in NRLP1), disseminated actinic porokeratosis (mutations in , and hidradenitis suppurativa are also included in this group of autoinflammatory keratinization disorders.

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Last updated on: 12.11.2023