Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics

Syuan-Fei Yang; Min-Huei Lin; Pei-Chen Chou; Sheng-Kai Hu; Sin-Yi Shih; Hsin-Su Yu; Sebastian Yu

doi:10.3390/genes14061297

Genetics of Generalized Pustular Psoriasis: Current Understanding and Implications for Future Therapeutics

Genes (Basel). 2023 Jun 20;14(6):1297. doi: 10.3390/genes14061297.

Authors

Syuan-Fei Yang^{1

2}, Min-Huei Lin², Pei-Chen Chou², Sheng-Kai Hu², Sin-Yi Shih², Hsin-Su Yu^{1

3}, Sebastian Yu^{1

4

5}

Affiliations

¹ Department of Dermatology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
² School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
³ Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
⁴ Department of Dermatology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.
⁵ Neuroscience Research Center, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

Abstract

Psoriasis is a chronic inflammatory skin disease characterized by the appearance of clearly demarcated erythematous and scaly plaques. It can be divided into various types, including plaque, nail, guttate, inverse, and pustular psoriasis. Plaque psoriasis is the most commonly occurring type, though there is another rare but severe pustular autoinflammatory skin disease called generalized pustular psoriasis (GPP), which manifests with acute episodes of pustulation and systemic symptoms. Though the etiopathogenesis of psoriasis is not yet fully understood, a growing body of literature has demonstrated that both genetic and environmental factors play a role. The discovery of genetic mutations associated with GPP has shed light on our comprehension of the mechanisms of the disease, promoting the development of targeted therapies. This review will summarize genetic determinants as known and provide an update on the current and potential treatments for GPP. The pathogenesis and clinical presentation of the disease are also included for a comprehensive discussion.

Keywords: AP1S3; CARD14; IL36RN; MPO; SERPINA1; SERPINA3; autoimmunity; inflammatory skin disease; psoriasis and genetics; pustular psoriasis.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Interleukins / genetics
Mutation
Psoriasis* / genetics
Psoriasis* / pathology
Skin / pathology
Skin Diseases, Vesiculobullous* / pathology

Substances

Interleukins

Grants and funding

This study was supported by grants from the Taiwan National Science and Technology Council (MOST-110-2628-B-037-007 and NSTC-111-2314-B-037-042) to S.Y. and grants from Kaohsiung Medical University Hospital (KMUH110-0R61 and KMUH111-1R59) to S.Y.