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
AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production
Satveer K. Mahil,Sophie Twelves,Katalin Farkas,Niovi Setta-Kaffetzi,A. David Burden,Joanna E. Gach,Alan D. Irvine,László Képíró,Maja Mockenhaupt,Hazel H Oon,Jason Pinner,Annamari Ranki,Marieke M B Seyger,Pere Soler-Palacín,Eoin R. Storan,Eugene S. Tan,Laurence Valeyrie-Allanore,Helen S. Young,Richard C. Trembath,Siew Eng Choon,Márta Széll,Zsuzsanna Bata-Csorgo,Catherine H. Smith,Paola Di Meglio,Jonathan Barker,Francesca Capon +25 more
TL;DR: It is shown that keratinocytes play a key role in skin autoinflammation and autophagy modulation of IL-36 signaling as a therapeutic target, and the effects of gene silencing on this pathway are investigated.
Journal ArticleDOI
An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target
Satveer K. Mahil,Marika Catapano,Marika Catapano,Paola Di Meglio,Paola Di Meglio,Nick Dand,Helena Ahlfors,Ian M. Carr,Catherine H. Smith,Richard C. Trembath,Mark Peakman,John Wright,Francesca D. Ciccarelli,Francesca D. Ciccarelli,Jonathan Barker,Francesca Capon +15 more
TL;DR: The results stem from genetic analyses, as well as ex vivo experimentation with patient samples and in vivo treatment of a mouse model, and suggest that blocking IL-36 signaling could bring relief to psoriasis patients.
Journal ArticleDOI
CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort
TL;DR: This is a PDF file of an unedited peer-reviewed manuscript that has been accepted for publication and will undergo copyediting, typesetting and a proof review before it is published in its final form.
Journal ArticleDOI
IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis
Safia Hussain,Dorottya M. Berki,Siew Eng Choon,A. David Burden,Michael H. Allen,Juan I. Aróstegui,Antonio Chaves,Michael Duckworth,Alan D. Irvine,Maja Mockenhaupt,Alexander A. Navarini,Alexander A. Navarini,Marieke M B Seyger,Pere Soler-Palacín,Christa Prins,Laurence Valeyrie-Allanore,M. Asuncion Vicente,Richard C. Trembath,Catherine H. Smith,Jonathan Barker,Francesca Capon +20 more
TL;DR: This paper aims to demonstrate the efforts towards in-situ applicability of EMMARM, as to provide real-time information about concrete mechanical properties such as E-modulus and compressive strength.
Journal ArticleDOI
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris
Dorottya M. Berki,Lu Liu,Siew Eng Choon,A. David Burden,Christopher E.M. Griffiths,Alexander A. Navarini,Eugene S. Tan,Alan D. Irvine,Alan D. Irvine,Annamari Ranki,Takeshi Ogo,Gabriela Petrof,Satveer K. Mahil,Michael Duckworth,Michael H. Allen,Pasquale Vito,Richard C. Trembath,John A. McGrath,Catherine H. Smith,Francesca Capon,Jonathan Barker +20 more
TL;DR: A systematic CARD14 analysis in an extended patient cohort indicated that the analysis of CARD14 mutations could help stratify pustular psoriasis cohorts but would be mostly uninformative in the context of Psoriasis and sporadic PRP.
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