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

被引:21
作者
Yang, Syuan-Fei [1 ,2 ]
Lin, Min-Huei [2 ]
Chou, Pei-Chen [2 ]
Hu, Sheng-Kai [2 ]
Shih, Sin-Yi [2 ]
Yu, Hsin-Su [1 ,3 ]
Yu, Sebastian [1 ,4 ,5 ]
机构
[1] Kaohsiung Med Univ, Kaohsiung Med Univ Hosp, Dept Dermatol, Kaohsiung 807, Taiwan
[2] Kaohsiung Med Univ, Coll Med, Sch Med, Kaohsiung 807, Taiwan
[3] Kaohsiung Med Univ, Grad Inst Clin Med, Coll Med, Kaohsiung 807, Taiwan
[4] Kaohsiung Med Univ, Coll Med, Dept Dermatol, Kaohsiung 807, Taiwan
[5] Kaohsiung Med Univ, Neurosci Res Ctr, Kaohsiung 807, Taiwan
关键词
psoriasis and genetics; pustular psoriasis; inflammatory skin disease; autoimmunity; IL36RN; CARD14; MPO; SERPINA1; SERPINA3; PLAQUE PSORIASIS; AP1S3; MUTATIONS; EFFICACY; IL36RN; SAFETY; 52-WEEK; COMPLEX; PATIENT; IL-36;
D O I
10.3390/genes14061297
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页数:12
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共 83 条
[1]   Autoinflammatory keratinization diseases: The concept, diseases involved, and pathogeneses [J].
Akiyama, Masashi .
DERMATOLOGICA SINICA, 2022, 40 (04) :197-203
[2]   Pustular psoriasis as an autoinflammatory keratinization disease (AiKD): Genetic predisposing factors and promising therapeutic targets [J].
Akiyama, Masashi .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2022, 105 (01) :11-17
[3]   Autoinflammatory keratinization diseases [J].
Akiyama, Masashi ;
Takeichi, Takuya ;
McGrath, John A. ;
Sugiura, Kazumitsu .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 140 (06) :1545-1547
[4]   Pathophysiology, Clinical Presentation, and Treatment of Psoriasis A Review [J].
Armstrong, April W. ;
Read, Charlotte .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2020, 323 (19) :1945-1960
[5]   Palmoplantar pustulosis and acrodermatitis continua of Hallopeau: demographic and clinical comparative study in a large multicentre cohort [J].
Assan, F. ;
Husson, B. ;
Hegazy, S. ;
Seneschal, J. ;
Aubin, F. ;
Mahe, E. ;
Jullien, D. ;
Sbidian, E. ;
D'Incan, M. ;
Conrad, C. ;
Brenaut, E. ;
Girard, C. ;
Richard, M. A. ;
Bachelez, H. ;
Viguier, M. .
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2022, 36 (09) :1578-1583
[6]   Trial of Spesolimab for Generalized Pustular Psoriasis [J].
Bachelez, H. ;
Choon, S-E ;
Marrakchi, S. ;
Burden, A. D. ;
Tsai, T-F ;
Morita, A. ;
Navarini, A. A. ;
Zheng, M. ;
Xu, J. ;
Turki, H. ;
Anadkat, M. J. ;
Rajeswari, S. ;
Hua, H. ;
Vulcu, S. D. ;
Hall, D. ;
Tetzlaff, K. ;
Thoma, C. ;
Lebwohl, M. G. .
NEW ENGLAND JOURNAL OF MEDICINE, 2021, 385 (26) :2431-2440
[7]   Generalized pustular psoriasis is a disease distinct from psoriasis vulgaris: evidence and expert opinion [J].
Bachelez, Herve ;
Barker, Jonathan ;
Burden, A. David ;
Navarini, Alexander A. ;
Krueger, James G. .
EXPERT REVIEW OF CLINICAL IMMUNOLOGY, 2022, 18 (10) :1033-1047
[8]   Inhibition of the Interleukin-36 Pathway for the Treatment of Generalized Pustular Psoriasis [J].
Bachelez, Herve ;
Choon, Siew-Eng ;
Marrakchi, Slaheddine ;
Burden, A. David ;
Tsai, Tsen-Fang ;
Morita, Akimichi ;
Turki, Hamida ;
Hall, David B. ;
Shear, Michael ;
Baum, Patrick ;
Padula, Steven J. ;
Thoma, Christian .
NEW ENGLAND JOURNAL OF MEDICINE, 2019, 380 (10) :981-983
[9]   Regulation and function of interleukin-36 cytokines [J].
Bassoy, Esen Yonca ;
Towne, Jennifer E. ;
Gabay, Cem .
IMMUNOLOGICAL REVIEWS, 2018, 281 (01) :169-178
[10]   Pustular psoriasis: Molecular pathways and effects of spesolimab in generalized pustular psoriasis [J].
Baum, Patrick ;
Visvanathan, Sudha ;
Garcet, Sandra ;
Roy, Janine ;
Schmid, Ramona ;
Bossert, Sebastian ;
Lang, Benjamin ;
Bachelez, Herve ;
Bissonnette, Robert ;
Thoma, Christian ;
Krueger, James G. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2022, 149 (04) :1402-1412