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
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Acrodermatitis continua of Hallopeau and generalised pustular psoriasis: Should they be the same or different entities?
Leena Chularojanamontri,Krittaya Rattanakorn,Narachai Julanon,Mati Chuamanochan,Christopher E.M. Griffiths +4 more
TL;DR: In this article , the similarities and differences between acrodermatitis continua of Hallopeau (ACH) and generalised pustular psoriasis (GPP) were reviewed.
Journal ArticleDOI
Aktuelle Entwicklungen und Perspektiven bei Psoriasis
TL;DR: In this paper , the Grundzüge der aktuellen Psoriasisforschung unter besonderer Berücksichtigung pathophysiologischer Vorgänge und der Meilensteine bei der Zulassung verschiedener Biologika and niedermolekularer Pharmaka.
Journal ArticleDOI
Damaging alleles affecting multiple CARD14 domains are associated with palmoplantar pustulosis.
Athanasios Niaouris,Ariana Hernández-Cordero,Salma Haddad,Nina Karoliina Hassi,Natashia Benzian-Olsson,Carmen Bugarin Diz,A. David Burden,H L Cooper,Christopher E.M. Griffiths,R Parslew,Andrew Pink,Nick J. Reynolds,Shyamal Wahie,Richard B. Warren,Andrew M Wright,Michael A. Simpson,Patrick Baum,Sudha Visvanathan,Jonathan Barker,Catherine H. Smith,Francesca Capon +20 more
TL;DR: This paper showed that mutations of the IL36RN and myeloperoxidase MPO genes are rarely found in patients with pustular psoriasis, and they are rarely associated with generalized pustulosis.
Journal ArticleDOI
Association of CYP2J2 polymorphism with susceptibility to psoriasis in Turkish population: a case-control study.
TL;DR: CYP2J2 50G>T (rs890293) polymorphism was associated with an increased risk for PsV in the Turkish population, and no association between CYP2J1 polymorphism and clinical features of psoriasis was identified.
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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
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
TL;DR: Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis.
Journal ArticleDOI
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
Alexandros Onoufriadis,Michael A. Simpson,Andrew Pink,Paola Di Meglio,Catherine H. Smith,Venu Pullabhatla,Jo Knight,Sarah L. Spain,Frank O. Nestle,A. David Burden,Francesca Capon,Richard C. Trembath,Jonathan Barker +12 more
TL;DR: Findings suggest loss of function of IL36RN as the genetic basis of GPP and implicate innate immune dysregulation in this severe episodic inflammatory disease, thereby highlighting IL-1 signaling as a potential target for therapeutic intervention.
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