Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
International Journal of Molecular Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1107-3756 Online ISSN: 1791-244X
Journal Cover
June-2021 Volume 47 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
June-2021 Volume 47 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Review Open Access

An update on genetic basis of generalized pustular psoriasis (Review)

  • Authors:
    • Jiahong Zhou
    • Qing Luo
    • Yang Cheng
    • Xia Wen
    • Jinbo Liu
  • View Affiliations / Copyright

    Affiliations: Department of Laboratory Medicine, Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan 646000, P.R. China
    Copyright: © Zhou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 118
    |
    Published online on: April 28, 2021
       https://doi.org/10.3892/ijmm.2021.4951
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Generalized pustular psoriasis (GPP) is a rare and severe auto‑inflammatory skin disease that is characterized by recurrent, acute onset, and generalized pustular eruptions on erythematous, inflamed skin. GPP is traditionally classified as a variant of psoriasis vulgaris, even though recent clinical, histological and genetic evidence suggests that it is a heterogeneous disease and requires a separate diagnosis. In recent years, variants of IL36RN, CARD14, AP1S3 and MPO genes have been identified as causative or contributing to genetic defects in a proportion of patients affected by GPP. These disease‑related genes are involved in common inflammatory pathways, in particular in the IL‑1/IL‑36‑chemokines‑neutrophil pathogenic axis. At present, no standard therapeutic guidelines have been established for GPP management, and there is a profound need for novel efficacious treatments of GPP. Among them, biological agents antagonizing the IL‑36 pathway are promising therapeutics. The aim of the present review is to provide the most recent updates on the genetics, genotype‑phenotype correlation and pathological basis of GPP, as well as on biologic treatments available for GPP and relative clinical courses.
View Figures

Figure 1

Figure 2

View References

1 

Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C and Barker JN; ERASPEN Network: European consensus statement on phenotypes of pustular psoriasis. J Eur Acad Dermatol Venereol. 31:1792–1799. 2017. View Article : Google Scholar : PubMed/NCBI

2 

Baker H and Ryan TJ: Generalized pustular psoriasis. A clinical and epidemiological study of 104 cases. Br J Dermatol. 80:771–793. 1968. View Article : Google Scholar : PubMed/NCBI

3 

Ohkawara A, Yasuda H, Kobayashi H, Inaba Y, Ogawa H, Hashimoto I and Imamura S: Generalized pustular psoriasis in Japan: Two distinct groups formed by differences in symptoms and genetic background. Acta Derm Venereol. 76:68–71. 1996.PubMed/NCBI

4 

Augey F, Renaudier P and Nicolas JF: Generalized pustular psoriasis (Zumbusch): A French epidemiological survey. Eur J Dermatol. 16:669–673. 2006.

5 

Ito T, Takahashi H, Kawada A, Iizuka H, Nakagawa H, Japanese Society For and Psoriasis Research: Epidemiological survey from 2009 to 2012 of psoriatic patients in Japanese society for psoriasis research. J Dermatol. 45:293–301. 2018. View Article : Google Scholar

6 

Takahashi H, Nakamura K, Kaneko F and Nakagawa H: Analysis of psoriasis patients registered with the Japanese society for psoriasis research from 2002-2008. J Dermatol. 38:1125–1129. 2011. View Article : Google Scholar : PubMed/NCBI

7 

Chen L, Huang X, Xiao Y, Su J, Shen M and Chen X: Prevalence and risk factors of atopic dermatitis, psoriasis, acne, and urticaria in China. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 45:449–455. 2020.In English, Chinese. PubMed/NCBI

8 

Talaee R, Hajheydari Z, Moghaddam AY, Moraveji SA and Ravandi BF: Prevalence of oral mucosal lesions and their association with severity of psoriasis among psoriatic patients referred to dermatology clinic: A cross-sectional study in Kashan/Iran. Open Access Maced J Med Sci. 5:978–982. 2017. View Article : Google Scholar

9 

Griffiths CE and Barker JN: Pathogenesis and clinical features of psoriasis. Lancet. 370:263–271. 2007. View Article : Google Scholar : PubMed/NCBI

10 

Steffen C: William John Munro and Munro's abscess, and Franz Kogoj and Kogoj's spongiform pustule. Am J Dermatopathol. 24:364–368. 2002. View Article : Google Scholar : PubMed/NCBI

11 

Crowley JJ, Pariser DM and Yamauchi PS: A brief guide to pustular psoriasis for primary care providers. Postgrad Med. 1–15. 2020.Online Ahead of Print.

12 

Benjegerdes KE, Hyde K, Kivelevitch D and Mansouri B: Pustular psoriasis: Pathophysiology and current treatment perspectives. Psoriasis (Auckl). 6:131–144. 2016.

13 

Sugiura K, Takemoto A, Yamaguchi M, Takahashi H, Shoda Y, Mitsuma T, Tsuda K, Nishida E, Togawa Y, Nakajima K, et al: The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist. J Invest Dermatol. 133:2514–2521. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Boehner A, Navarini AA and Eyerich K: Generalized pustular psoriasis-a model disease for specific targeted immunotherapy, systematic review. Exp Dermatol. 27:1067–1077. 2018. View Article : Google Scholar : PubMed/NCBI

15 

Li M, Han J, Lu Z, Li H, Zhu K, Cheng R, Jiao Q, Zhang C, Zhu C, Zhuang Y, et al: Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris. J Invest Dermatol. 133:2637–2639. 2013. View Article : Google Scholar : PubMed/NCBI

16 

Li X, Chen M, Fu X, Zhang Q, Wang Z, Yu G, Yu Y, Qin P, Wu W, Pan F, et al: Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris. J Dermatol Sci. 76:132–138. 2014. View Article : Google Scholar : PubMed/NCBI

17 

Hussain S, Berki DM, Choon SE, Burden AD, Allen MH, Arostegui JI, Chaves A, Duckworth M, Irvine AD, Mockenhaupt M, et al: IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis. J Allergy Clin Immunol. 135:1067–1070.e9. 2015. View Article : Google Scholar

18 

Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, et al: Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med. 365:620–628. 2011. View Article : Google Scholar : PubMed/NCBI

19 

Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, et al: PSORS2 is due to mutations in CARD14. Am J Hum Genet. 90:784–795. 2012. View Article : Google Scholar : PubMed/NCBI

20 

Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, et al: AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. Am J Hum Genet. 94:790–797. 2014. View Article : Google Scholar : PubMed/NCBI

21 

Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, et al: Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease. Am J Hum Genet. 107:539–543. 2020. View Article : Google Scholar : PubMed/NCBI

22 

Twelves S, Mostafa A, Dand N, Burri E, Farkas K, Wilson R, Cooper HL, Irvine AD, Oon HH, Kingo K, et al: Clinical and genetic differences between pustular psoriasis subtypes. J Allergy Clin Immunol. 143:1021–1026. 2019. View Article : Google Scholar :

23 

Mössner R, Wilsmann-Theis D, Oji V, Gkogkolou P, Löhr S, Schulz P, Körber A, Prinz JC, Renner R, Schäkel K, et al: The genetic basis for most patients with pustular skin disease remains elusive. Br J Dermatol. 178:740–748. 2018. View Article : Google Scholar

24 

Sugiura K, Muto M and Akiyama M: CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort. J Invest Dermatol. 134:1755–1757. 2014. View Article : Google Scholar : PubMed/NCBI

25 

Li L, You J, Fu X, Wang Z, Sun Y, Liu H and Zhang F: Variants of CARD14 are predisposing factors for generalized pustular psoriasis (GPP) with psoriasis vulgaris but not for GPP alone in a Chinese population. Br J Dermatol. 180:425–426. 2019. View Article : Google Scholar

26 

Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach JE, Irvine AD, Képíró L, Mockenhaupt M, Oon HH, et al: AP1S3 mutations cause skisn autoinflammation by disrupting keratinocyte autophagy and up-regulating IL-36 production. J Invest Dermatol. 136:2251–2259. 2016. View Article : Google Scholar : PubMed/NCBI

27 

Towne JE, Garka KE, Renshaw BR, Virca GD and Sims JE: Interleukin (IL)-1F6, IL-1F8, and IL-1F9 signal through IL-1Rrp2 and IL-1RAcP to activate the pathway leading to NF-kappaB and MAPKs. J Biol Chem. 279:13677–13688. 2004. View Article : Google Scholar : PubMed/NCBI

28 

Buhl AL and Wenzel J: Interleukin-36 in infectious and inflammatory skin diseases. Front Immunol. 10:11622019. View Article : Google Scholar : PubMed/NCBI

29 

Johnston A, Xing X, Wolterink L, Barnes DH, Yin Z, Reingold L, Kahlenberg JM, Harms PW and Gudjonsson JE: IL-1 and IL-36 are dominant cytokines in generalized pustular psoriasis. J Allergy Clin Immunol. 140:109–120. 2017. View Article : Google Scholar : PubMed/NCBI

30 

Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, et al: Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 89:432–437. 2011. View Article : Google Scholar : PubMed/NCBI

31 

Furue K, Yamamura K, Tsuji G, Mitoma C, Uchi H, Nakahara T, Kido-Nakahara M, Kadono T and Furue M: Highlighting interleukin-36 signalling in plaque psoriasis and pustular psoriasis. Acta Derm Venereol. 98:5–13. 2018. View Article : Google Scholar

32 

Cowen EW and Goldbach-Mansky R: DIRA, DITRA, and new insights into pathways of skin inflammation: What's in a name? Arch Dermatol. 148:381–384. 2012. View Article : Google Scholar : PubMed/NCBI

33 

Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, et al: An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 360:2426–2437. 2009. View Article : Google Scholar : PubMed/NCBI

34 

Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ and Verbsky J: An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 360:2438–2444. 2009. View Article : Google Scholar : PubMed/NCBI

35 

Sugiura K, Takeichi T, Kono M, Ogawa Y, Shimoyama Y, Muro Y and Akiyama M: A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis. Br J Dermatol. 167:699–701. 2012. View Article : Google Scholar : PubMed/NCBI

36 

Kanazawa N, Nakamura T, Mikita N and Furukawa F: Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis. J Dermatol. 40:749–751. 2013. View Article : Google Scholar : PubMed/NCBI

37 

Farooq M, Nakai H, Fujimoto A, Fujikawa H, Matsuyama A, Kariya N, Aizawa A, Fujiwara H, Ito M and Shimomura Y: Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis. Hum Mutat. 34:176–183. 2013. View Article : Google Scholar

38 

Tauber M, Bal E, Pei XY, Madrange M, Khelil A, Sahel H, Zenati A, Makrelouf M, Boubridaa K, Chiali A, et al: IL36RN mutations affect protein expression and function: A basis for genotype-phenotype correlation in pustular diseases. J Invest Dermatol. 136:1811–1819. 2016. View Article : Google Scholar : PubMed/NCBI

39 

Setta-Kaffetzi N, Navarini AA, Patel VM, Pullabhatla V, Pink AE, Choon SE, Allen MA, Burden AD, Griffiths CE, Seyger MM, et al: Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. J Invest Dermatol. 133:1366–1369. 2013. View Article : Google Scholar : PubMed/NCBI

40 

Sugiura K, Nakasuka A, Kono H, Kono M and Akiyama M: Impetigo herpetiformis with IL36RN mutations in a Chinese patient: A founder haplotype of c.115+6T>C in East Asia. J Dermatol Sci. 79:319–320. 2015. View Article : Google Scholar : PubMed/NCBI

41 

Shiratori T, Fukai K, Yasumizu M, Taguchi R, Tsuruta D, Abe Y, Hozumi Y and Suzuki T: IL36RN gene analysis of two Japanese patients with generalized pustular psoriasis. Int J Dermatol. 54:e60–e62. 2015. View Article : Google Scholar : PubMed/NCBI

42 

Wang Y, Cheng R, Lu Z, Guo Y, Yan M, Liang J, Huang P, Li M and Yao Z: Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes. J Dermatol Sci. 85:235–240. 2017. View Article : Google Scholar : PubMed/NCBI

43 

Renert-Yuval Y, Horev L, Babay S, Tams S, Ramot Y, Zlotogorski A and Molho-Pessach V: IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient. Int J Dermatol. 53:866–868. 2014. View Article : Google Scholar : PubMed/NCBI

44 

Ueda Y, Komine M, Kamiya K, Tsuda H, Maekawa T, Murata S and Ohtsuki M: Generalized pustular psoriasis in a 92-year-old man with a homozygous nonsense mutation in IL36RN. J Dermatol. 45:326–328. 2018. View Article : Google Scholar

45 

Ellingford JM, Black GC, Clayton TH, Judge M, Griffiths CE and Warren RB: A novel mutation in IL36RN underpins childhood pustular dermatosis. J Eur Acad Dermatol Venereol. 30:302–305. 2016. View Article : Google Scholar :

46 

Rossi-Semerano L, Piram M, Chiaverini C, De Ricaud D, Smahi A and Koné-Paut I: First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra. Pediatrics. 132:e1043–e1047. 2013. View Article : Google Scholar : PubMed/NCBI

47 

Körber A, Mössner R, Renner R, Sticht H, Wilsmann-Theis D, Schulz P, Sticherling M, Traupe H and Hüffmeier U: Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol. 133:2634–2637. 2013. View Article : Google Scholar : PubMed/NCBI

48 

Takeichi T, Togawa Y, Okuno Y, Taniguchi R, Kono M, Matsue H, Sugiura K and Akiyama M: A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. J Dermatol Sci. 85:58–60. 2017. View Article : Google Scholar

49 

Wang TS, Chiu HY, Hong JB, Chan CC, Lin SJ and Tsai TF: Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients. Arch Dermatol Res. 308:55–63. 2016. View Article : Google Scholar

50 

Abbas O, Itani S, Ghosn S, Kibbi AG, Fidawi G, Farooq M, Shimomura Y and Kurban M: Acrodermatitis continua of Hallopeau is a clinical phenotype of DITRA: Evidence that it is a variant of pustular psoriasis. Dermatology. 226:28–31. 2013. View Article : Google Scholar : PubMed/NCBI

51 

Sugiura K, Endo K, Akasaka T and Akiyama M: Successful treatment with infliximab of sibling cases with generalized pustular psoriasis caused by deficiency of interleukin-36 receptor antagonist. J Eur Acad Dermatol Venereol. 29:2054–2056. 2015. View Article : Google Scholar

52 

Song HS, Yun SJ, Park S and Lee ES: Gene mutation analysis in a Korean patient with early-onset and recalcitrant generalized pustular psoriasis. Ann Dermatol. 26:424–425. 2014. View Article : Google Scholar : PubMed/NCBI

53 

Liang J, Zhang H, Guo Y, Yang K, Ni C, Yu H, Kong X, Li M, Lu Z and Yao Z: Coinheritance of generalized pustular psoriasis and familial Behçet-like autoinflammatory syndrome with variants in IL36RN and TNFAIP3 in the heterozygous state. J Dermatol. 46:907–910. 2019. View Article : Google Scholar : PubMed/NCBI

54 

Scudiero I, Zotti T, Ferravante A, Vessichelli M, Vito P and Stilo R: Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death. J Cell Physiol. 226:3121–3131. 2011. View Article : Google Scholar : PubMed/NCBI

55 

Bertin J, Wang L, Guo Y, Jacobson MD, Poyet JL, Srinivasula SM, Merriam S, DiStefano PS and Alnemri ES: CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B. J Biol Chem. 276:11877–11882. 2001. View Article : Google Scholar : PubMed/NCBI

56 

Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, et al: Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 90:796–808. 2012. View Article : Google Scholar : PubMed/NCBI

57 

Qin P, Zhang Q, Chen M, Fu X, Wang C, Wang Z, Yu G, Yu Y, Li X, Sun Y, et al: Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis. J Invest Dermatol. 134:2994–2996. 2014. View Article : Google Scholar : PubMed/NCBI

58 

Berki DM, Liu L, Choon SE, David Burden A, Griffiths CEM, Navarini AA, Tan ES, Irvine AD, Ranki A, Ogo T, et al: Activating CARD14 mutations are associated with generalized pustular psoriasis but rarely account for familial recurrence in psoriasis vulgaris. J Invest Dermatol. 135:2964–2970. 2015. View Article : Google Scholar : PubMed/NCBI

59 

Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, Schauer C, Ringer M, Flamann C, et al: Myeloperoxidase modulates inflammation in generalized pustular psoriasis and additional rare pustular skin diseases. Am J Hum Genet. 107:527–538. 2020. View Article : Google Scholar : PubMed/NCBI

60 

De Argila D, Dominguez JD, Lopez-Estebaranz JL and Iglesias L: Pustular psoriasis in a patient with myeloperoxidase deficiency. Dermatology. 193:2701996. View Article : Google Scholar : PubMed/NCBI

61 

Stendahl O, Coble BI, Dahlgren C, Hed J and Molin L: Myeloperoxidase modulates the phagocytic activity of polymorphonuclear neutrophil leukocytes. Studies with cells from a myeloperoxidase-deficient patient. J Clin Invest. 73:366–373. 1984. View Article : Google Scholar : PubMed/NCBI

62 

Kizaki M, Miller CW, Selsted ME and Koeffler HP: Myeloperoxidase (MPO) gene mutation in hereditary MPO deficiency. Blood. 83:1935–1940. 1994. View Article : Google Scholar : PubMed/NCBI

63 

Marchetti C, Patriarca P, Solero GP, Baralle FE and Romano M: Genetic studies on myeloperoxidase deficiency in Italy. Jpn J Infect Dis. 57:S10–S12. 2004.PubMed/NCBI

64 

Marchetti C, Patriarca P, Solero GP, Baralle FE and Romano M: Genetic characterization of myeloperoxidase deficiency in Italy. Hum Mutat. 23:496–505. 2004. View Article : Google Scholar : PubMed/NCBI

65 

Akiyama M, Takeichi T, McGrath JA and Sugiura K: Autoinflammatory keratinization diseases. J Allergy Clin Immunol. 140:1545–1547. 2017. View Article : Google Scholar : PubMed/NCBI

66 

Akiyama M: Early-onset generalized pustular psoriasis is representative of autoinflammatory keratinization diseases. J Allergy Clin Immunol. 143:809–810. 2019. View Article : Google Scholar : PubMed/NCBI

67 

Kanazawa N: Designation of autoinflammatory skin manifestations with specific genetic backgrounds. Front Immunol. 11:4752020. View Article : Google Scholar : PubMed/NCBI

68 

Takeichi T and Akiyama M: Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. J Dermatol. 46. pp. e125–e126. 2019, View Article : Google Scholar

69 

Liang Y, Xing X, Beamer MA, Swindell WR, Sarkar MK, Roberts LW, Voorhees JJ, Kahlenberg JM, Harms PW, Johnston A and Gudjonsson JE: Six-transmembrane epithelial antigens of the prostate comprise a novel inflammatory nexus in patients with pustular skin disorders. J Allergy Clin Immunol. 139:1217–1227. 2017. View Article : Google Scholar

70 

Ogawa E, Sato Y, Minagawa A and Okuyama R: Pathogenesis of psoriasis and development of treatment. J Dermatol. 45:264–272. 2018. View Article : Google Scholar

71 

Nestle FO, Conrad C, Tun-Kyi A, Homey B, Gombert M, Boyman O, Burg G, Liu YJ and Gilliet M: Plasmacytoid predendritic cells initiate psoriasis through interferon-alpha production. J Exp Med. 202:135–143. 2005. View Article : Google Scholar : PubMed/NCBI

72 

Mudigonda P, Mudigonda T, Feneran AN, Alamdari HS, Sandoval L and Feldman SR: Interleukin-23 and interleukin-17: Importance in pathogenesis and therapy of psoriasis. Dermatol Online J. 18:12012.PubMed/NCBI

73 

Coimbra S, Oliveira H, Reis F, Belo L, Rocha S, Quintanilha A, Figueiredo A, Teixeira F, Castro E, Rocha-Pereira P and Santos-Silva A: Interleukin (IL)-22, IL-17, IL-23, IL-8, vascular endothelial growth factor and tumour necrosis factor-α levels in patients with psoriasis before, during and after psoralen-ultraviolet A and narrowband ultraviolet B therapy. Br J Dermatol. 163:1282–1290. 2010. View Article : Google Scholar : PubMed/NCBI

74 

Grine L, Dejager L, Libert C and Vandenbroucke RE: An inflammatory triangle in psoriasis: TNF, type I IFNs and IL-17. Cytokine Growth Factor Rev. 26:25–33. 2015. View Article : Google Scholar

75 

Fanoni D, Venegoni L, Vergani B, Tavecchio S, Cattaneo A, Leone BE, Berti E and Marzano AV: Evidence for a role of auto-inflammation in early-phase psoriasis. Clin Exp Immunol. 198:283–291. 2019. View Article : Google Scholar : PubMed/NCBI

76 

Hüffmeier U, Wätzold M, Mohr J, Schön MP and Mössner R: Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations. Br J Dermatol. 170:202–204. 2014. View Article : Google Scholar

77 

Mansouri B, Richards L and Menter A: Treatment of two patients with generalized pustular psoriasis with the interleukin-1β inhibitor gevokizumab. Br J Dermatol. 173:239–241. 2015. View Article : Google Scholar

78 

Skendros P, Papagoras C, Lefaki I, Giatromanolaki A, Kotsianidis I, Speletas M, Bocly V, Theodorou I, Dalla V and Ritis K: Successful response in a case of severe pustular psoriasis after interleukin-1β inhibition. Br J Dermatol. 176:212–215. 2017. View Article : Google Scholar

79 

Bachelez H, Choon SE, Marrakchi S, Burden AD, Tsai TF, Morita A, Turki H, Hall DB, Shear M, Baum P, et al: Inhibition of the interleukin-36 pathway for the treatment of generalized pustular psoriasis. N Engl J Med. 380:981–983. 2019. View Article : Google Scholar : PubMed/NCBI

80 

Fialová J, Vojáčková N, Vaňousová D and Hercogová J: Juvenile generalized pustular psoriasis treated with etanercept. Dermatol Ther. 27:105–108. 2014. View Article : Google Scholar : PubMed/NCBI

81 

Esposito M, Mazzotta A, Casciello C and Chimenti S: Etanercept at different dosages in the treatment of generalized pustular psoriasis: A case series. Dermatology. 216:355–360. 2008. View Article : Google Scholar : PubMed/NCBI

82 

Viguier M, Aubin F, Delaporte E, Pagès C, Paul C, Beylot-Barry M, Goujon C, Rybojad M and Bachelez H; Groupe de Recherche sur le Psoriasis de la Société Française de Dermatologie: Efficacy and safety of tumor necrosis factor inhibitors in acute generalized pustular psoriasis. Arch Dermatol. 148:1423–1425. 2012. View Article : Google Scholar : PubMed/NCBI

83 

Saikaly SK and Mattes M: Biologics and pediatric generalized pustular psoriasis: An emerging therapeutic trend. Cureus. 8:e6522016.PubMed/NCBI

84 

Cuperus E, Koevoets R, van der Smagt JJ, Toonstra J, de Graaf M, Frenkel J and Pasmans SGMA: Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin. JAAD Case Rep. 4:192–195. 2018. View Article : Google Scholar : PubMed/NCBI

85 

Adachi A, Komine M, Hirano T, Tsuda H, Karakawa M, Murata S and Ohtsuki M: Case of generalized pustular psoriasis exacerbated during pregnancy, successfully treated with infliximab. J Dermatol. 43:1439–1440. 2016. View Article : Google Scholar : PubMed/NCBI

86 

Pan J, Qiu L, Xiao T and Chen HD: Juvenile generalized pustular psoriasis with IL36RN mutation treated with short-term infliximab. Dermatol Ther. 29:164–167. 2016. View Article : Google Scholar

87 

Morita A, Yamazaki F, Matsuyama T, Takahashi K, Arai S, Asahina A, Imafuku S, Nakagawa H, Hasegawa Y, Williams D, et al: Adalimumab treatment in Japanese patients with generalized pustular psoriasis: Results of an open-label phase 3 study. J Dermatol. 45:1371–1380. 2018. View Article : Google Scholar : PubMed/NCBI

88 

Matsumoto A, Komine M, Karakawa M, Kishimoto M and Ohtsuki M: Adalimumab administration after infliximab therapy is a successful treatment strategy for generalized pustular psoriasis. J Dermatol. 44:202–204. 2017. View Article : Google Scholar

89 

Egawa G, Honda T and Kabashima K: Long-term efficacy of ixekizumab in erythrodermic and generalized pustular psoriasis patients. J Eur Acad Dermatol Venereol. 33:2592019. View Article : Google Scholar : PubMed/NCBI

90 

Wilsmann-Theis D, Schnell LM, Ralser-Isselstein V, Bieber T, Schön MP, Hüffmeier U and Mössner R: Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations. J Dermatol. 45:850–854. 2018. View Article : Google Scholar : PubMed/NCBI

91 

Okubo Y, Mabuchi T, Iwatsuki K, Elmaraghy H, Torisu-Itakura H, Morisaki Y and Nakajo K: Long-term efficacy and safety of ixekizumab in Japanese patients with erythrodermic or generalized pustular psoriasis: Subgroup analyses of an open-label, phase 3 study (UNCOVER-J). J Eur Acad Dermatol Venereol. 33:325–332. 2019. View Article : Google Scholar

92 

Ho PH and Tsai TF: Successful treatment of refractory juvenile generalized pustular psoriasis with secukinumab monotherapy: A case report and review of published work. J Dermatol. 45:1353–1356. 2018. View Article : Google Scholar : PubMed/NCBI

93 

Imafuku S, Honma M, Okubo Y, Komine M, Ohtsuki M, Morita A, Seko N, Kawashima N, Ito S, Shima T and Nakagawa H: Efficacy and safety of secukinumab in patients with generalized pustular psoriasis: A 52-week analysis from phase III open-label multi-center Japanese study. J Dermatol. 43:1011–1017. 2016. View Article : Google Scholar : PubMed/NCBI

94 

Gabeff R, Safar R, Leducq S, Maruani A, Sarrabay G, Touitou I and Samimi M: Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation. Int J Dermatol. 58:e16–e17. 2019. View Article : Google Scholar

95 

Yamasaki K, Nakagawa H, Kubo Y and Ootaki K; Japanese Brodalumab Study Group: Efficacy and safety of brodalumab in patients with generalized pustular psoriasis and psoriatic erythroderma: Results from a 52-week, open-label study. Br J Dermatol. 176:741–751. 2017. View Article : Google Scholar

96 

Storan ER, O'Gorman SM and Markham T: Generalized pustular psoriasis treated with ustekinumab. Clin Exp Dermatol. 41:689–690. 2016. View Article : Google Scholar : PubMed/NCBI

97 

Arakawa A, Ruzicka T and Prinz JC: Therapeutic efficacy of interleukin 12/interleukin 23 blockade in generalized pustular psoriasis regardless of IL36RN mutation status. JAMA Dermatol. 152:825–828. 2016. View Article : Google Scholar : PubMed/NCBI

98 

Viguier M, Guigue P, Pages C, Smahi A and Bachelez H: Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: Lack of correlation with IL1RN mutations. Ann Intern Med. 153:66–67. 2010. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zhou J, Luo Q, Cheng Y, Wen X and Liu J: An update on genetic basis of generalized pustular psoriasis (Review). Int J Mol Med 47: 118, 2021.
APA
Zhou, J., Luo, Q., Cheng, Y., Wen, X., & Liu, J. (2021). An update on genetic basis of generalized pustular psoriasis (Review). International Journal of Molecular Medicine, 47, 118. https://doi.org/10.3892/ijmm.2021.4951
MLA
Zhou, J., Luo, Q., Cheng, Y., Wen, X., Liu, J."An update on genetic basis of generalized pustular psoriasis (Review)". International Journal of Molecular Medicine 47.6 (2021): 118.
Chicago
Zhou, J., Luo, Q., Cheng, Y., Wen, X., Liu, J."An update on genetic basis of generalized pustular psoriasis (Review)". International Journal of Molecular Medicine 47, no. 6 (2021): 118. https://doi.org/10.3892/ijmm.2021.4951
Copy and paste a formatted citation
x
Spandidos Publications style
Zhou J, Luo Q, Cheng Y, Wen X and Liu J: An update on genetic basis of generalized pustular psoriasis (Review). Int J Mol Med 47: 118, 2021.
APA
Zhou, J., Luo, Q., Cheng, Y., Wen, X., & Liu, J. (2021). An update on genetic basis of generalized pustular psoriasis (Review). International Journal of Molecular Medicine, 47, 118. https://doi.org/10.3892/ijmm.2021.4951
MLA
Zhou, J., Luo, Q., Cheng, Y., Wen, X., Liu, J."An update on genetic basis of generalized pustular psoriasis (Review)". International Journal of Molecular Medicine 47.6 (2021): 118.
Chicago
Zhou, J., Luo, Q., Cheng, Y., Wen, X., Liu, J."An update on genetic basis of generalized pustular psoriasis (Review)". International Journal of Molecular Medicine 47, no. 6 (2021): 118. https://doi.org/10.3892/ijmm.2021.4951
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team