AiKDs

Last updated on: 12.11.2023

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Definition
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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.

Literature
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  1. Akiyama M. Pustular psoriasis as an autoinflammatory keratinization disease (AiKD): Genetic predisposing factors and promising therapeutic targets. J Dermatol Sci. 2022 Jan;105(1):11-17.
  2. de Mezer M et al. (2023) SERPINA3: stimulator or inhibitor of pathological changes. Biomedicines 11:156.
  3. Hospach T et al. (2019) Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents. Pediatr Rheumatol Online J 17:37.
  4. Slowik A et al (2005) Alpha1-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage. Stroke 36:737-740.
  5. Stephenson C et al. (2020) Novel use of Autoinflammatory Diseases Activity Index (AIDAI) captures skin and extracutaneous features to help manage pediatric DITRA: A case report and a proposal for a modified disease activity index in autoinflammatory keratinization disorders. Pediatr Dermatol 37:670-676.
  6. Yang SF et al (2023) Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics. Genes (Basel) 14:1297.

Last updated on: 12.11.2023