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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Prevalence, comorbidities and mortality of generalized pustular psoriasis: A literature review
Jörg C. Prinz,Siew Eng Choon,Christopher E.M. Griffiths,Joseph F. Merola,Akimichi Morita,Darren M. Ashcroft,Manuelle Viguier +6 more
TL;DR: In this paper , the authors present an overview of the available data on generalized pustular psoriasis prevalence estimates in key demographics and report the frequency of genetic mutations associated with the disease.
Journal ArticleDOI
Could basement membrane alterations, resembling micro-wounds at the dermo-epidermal junction in psoriatic non-lesional skin, make the skin susceptible to lesion formation?
Renáta Bozó,Lili Borbála Flink,Nóra Belső,B. Gubán,Márta Széll,Lajos Kemény,Zsuzsanna Bata-Csörgő +6 more
TL;DR: In this article, the authors argue that studying the constitutively abnormal functions of clinically uninvolved psoriatic skin in patients with plaque type psoriasis is very important to better understand pathobiology, because non-lesional skin provides the tissue environment in which the psoratic lesion develops.
Journal ArticleDOI
Economic Burden of Generalized Pustular Psoriasis in Sweden: A Population-Based Register Study
TL;DR: In this paper , the authors investigated the economic burden of disease in patients with generalized pustular psoriasis (GPP), and showed that the share of total cost was 22% for all-cause physician outpatient visits and 40% for inpatient stays.
Journal ArticleDOI
Prevalence and incidence of palmoplantar pustulosis in Sweden: a population-based register study.
TL;DR: Palmoplantar pustulosis is a chronic relapsing skin condition characterized by sterile pustules on the palm and soles and its incidence and prevalence are limited.
Journal ArticleDOI
Generalized pustular psoriasis is a disease distinct from psoriasis vulgaris: evidence and expert opinion
TL;DR: Evidence that supports the classification of GPP as distinct from PV is reviewed, which shows fundamental differences exist between the two conditions in terms of genetic causes and expression-related mechanisms of disease development.
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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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