Clinical and genetic differences between pustular psoriasis subtypes
Sophie Twelves,Alshimaa Mostafa,Alshimaa Mostafa,Nick Dand,Elias Burri,Katalin Farkas,Rosemary Wilson,Hywel L Cooper,Alan D. Irvine,Hazel H Oon,Külli Kingo,Sulev Kõks,Ulrich Mrowietz,Luis Puig,Nick J. Reynolds,Eugene Sern Ting Tan,Adrian Tanew,Kaspar Torz,Hannes Trattner,Mark C Valentine,Shyamal Wahie,Richard B. Warren,Andrew Wright,Zsuzsa Bata-Csörgő,Márta Széll,Christopher E.M. Griffiths,A. David Burden,Siew Eng Choon,Catherine H. Smith,Jonathan Barker,Alexander A. Navarini,Francesca Capon +31 more
TLDR
In this paper, the authors sought to characterize the clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort, including 863 unrelated patients (251 with GPP, 560 with PPP, 28 with acrodermatitis continua of Hallopeau [ACH], and 24 with multiple diagnoses).Abstract:
Background The term pustular psoriasis indicates a group of severe skin disorders characterized by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris, can have an acute systemic (generalized pustular psoriasis [GPP]) or chronic localized (palmoplantar pustulosis [PPP] and acrodermatitis continua of Hallopeau [ACH]) presentation. Although mutations have been uncovered in IL36RN and AP1S3, the rarity of the disease has hindered the study of genotype-phenotype correlations. Objective We sought to characterize the clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort. Methods We ascertained a data set of unprecedented size, including 863 unrelated patients (251 with GPP, 560 with PPP, 28 with ACH, and 24 with multiple diagnoses). We undertook mutation screening in 473 cases. Results Psoriasis vulgaris concurrence was lowest in PPP (15.8% vs 54.4% in GPP and 46.2% in ACH, P Conclusions The analysis of an unparalleled resource revealed key clinical and genetic differences between patients with PPP and those with GPP.read more
Citations
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Journal ArticleDOI
An update on generalized pustular psoriasis.
TL;DR: A summary of the main features of GPP, including possible immune and genetic factors (particularly the interleukin-36 pathway), and the limitations of treatment options available to doctors are provided.
Journal ArticleDOI
Autoinflammatory keratinization diseases
TL;DR: The concept of AIKDs encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and hyperactivation of the innate immune system resulting from those genetic defects plays an important role in the pathogenesis.
Journal ArticleDOI
The Significance of IL-36 Hyperactivation and IL-36R Targeting in Psoriasis.
Stefania Madonna,Giampiero Girolomoni,Charles A. Dinarello,Charles A. Dinarello,Cristina Albanesi +4 more
TL;DR: The pathogenic mechanisms leading to the altered balance of IL-36 agonists/antagonists and the significance of this dysregulation in psoriasis are discussed to provide a theoretical basis for the development of novel therapeutic strategies based on IL- 36 agonist/antagonist manipulation in psoriatic skin.
Journal ArticleDOI
Efficacy and Safety of Guselkumab in Japanese Patients With Palmoplantar Pustulosis: A Phase 3 Randomized Clinical Trial.
Tadashi Terui,Satomi Kobayashi,Yukari Okubo,Masamoto Murakami,Richuan Zheng,Hitomi Morishima,Ryosuke Goto,Takayuki Kimura +7 more
TL;DR: Efficacy end points improved consistently through week 52, and health-related quality of life also improved significantly, meaning Guselkumab may be an effective and safe treatment option for management of palmoplantar pustulosis.
Journal ArticleDOI
Palmoplantar pustulosis: Current understanding of disease definition and pathomechanism
Masamoto Murakami,Tadashi Terui +1 more
TL;DR: The current understanding of PPP is summarized, including the revised definition and possible pathomechanism, which provides a more complete picture of the disease and may facilitate the development of improved treatment options.
References
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Journal ArticleDOI
PSORS2 Is Due to Mutations in CARD14
Craig T. Jordan,Li Cao,Elisha D.O. Roberson,Katherine C. Pierson,Chi Fan Yang,Cailin E. Joyce,Caitriona Ryan,Shenghui Duan,Cynthia Helms,Yin Liu,Yongqing Chen,Alison A. McBride,Wuh-Liang Hwu,Jer-Yuarn Wu,Yuan-Tsong Chen,Alan Menter,Raphaela Goldbach-Mansky,Michelle A. Lowes,Anne M. Bowcock +18 more
TL;DR: It is proposed that, after a triggering event that can include epidermal injury, rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes, which perpetuates a vicious cycle of epidersmal inflammation and regeneration, a cycle which is the hallmark of psoriasis.
Journal ArticleDOI
Activation of the aryl hydrocarbon receptor dampens the severity of inflammatory skin conditions.
Paola Di Meglio,João H. Duarte,Helena Ahlfors,Nick D.L. Owens,Ying Li,Federica Villanova,Isabella Tosi,Keiji Hirota,Frank O. Nestle,Ulrich Mrowietz,Michael J. Gilchrist,Brigitta Stockinger +11 more
TL;DR: It is shown that the aryl hydrocarbon receptor (AhR), a transcription factor that senses environmental stimuli, modulates pathology in psoriasis and suggests a critical role for AhR in the regulation of inflammatory responses and opens the possibility for novel therapeutic strategies in chronic inflammatory disorders.
Journal ArticleDOI
European Consensus Statement on Phenotypes of Pustular Psoriasis
Alexander A. Navarini,D Burden,Francesca Capon,Ulrich Mrowietz,Lluís Puig,Catherine H. Smith,J. Barker +6 more
TL;DR: This work presents initial considerations on the phenotypes of PP and a consensus classification of clinical phenotypes that will be used as a baseline for further, prospective studies of PP.
Journal ArticleDOI
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking
Niovi Setta-Kaffetzi,Michael A. Simpson,Alexander A. Navarini,Varsha M. Patel,Hui-Chun Lu,Michael H. Allen,Michael Duckworth,Hervé Bachelez,A. David Burden,Siew Eng Choon,Christopher E.M. Griffiths,Brian Kirby,Antonios G.A. Kolios,Marieke M B Seyger,Christa Prins,Asma Smahi,Richard C. Trembath,Richard C. Trembath,Franca Fraternali,Catherine H. Smith,Jonathan Barker,Francesca Capon +21 more
TL;DR: It is found that AP1S3 silencing disrupted the endosomal translocation of the innate pattern-recognition receptor TLR-3 (Toll-like receptor 3) and resulted in a marked inhibition of downstream signaling.
Journal ArticleDOI
Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.
Niovi Setta-Kaffetzi,Alexander A. Navarini,Varsha M. Patel,Venu Pullabhatla,Andrew Pink,Siew Eng Choon,M Allen,A. David Burden,Christopher E.M. Griffiths,Marieke M B Seyger,Brian Kirby,Richard C. Trembath,Richard C. Trembath,Michael A. Simpson,Catherine H. Smith,Francesca Capon,Jonathan Barker +16 more
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Slaheddine Marrakchi,Philippe Guigue,Blair R. Renshaw,Anne Puel,Xue-Yuan Pei,Sylvie Fraitag,Jihen Zribi,Elodie Bal,Céline Cluzeau,Maya Chrabieh,Jennifer E. Towne,Jason Douangpanya,Christian Pons,Sourour Mansour,Valérie Serre,Hafedh Makni,Nadia Mahfoudh,Faiza Fakhfakh,Christine Bodemer,Josué Feingold,Smail Hadj-Rabia,Michel Favre,Emmanuelle Génin,Mourad Sahbatou,Arnold Munnich,Jean-Laurent Casanova,John E. Sims,Hamida Turki,Hervé Bachelez,Asma Smahi +29 more