Clinical and genetic differences between pustular psoriasis subtypes
Twelves, Sophie (King's College London)
Mostafa, Alshimaa (Beni Suef University)
Dand, Nick (King's College London)
Burri, Elias (University Hospital Zurich (Suïssa))
Farkas, K. (University of Szeged)
Wilson, Rosemary (King's College London)
Cooper, Hywel L. (Portsmouth Hospitals Trust)
Irvine, Alan D. (Trinity College Dublin)
Oon, Hazel H. (National Skin Centre)
Kingo, Külli (Tartu University Hospital (Tartu, Estònia))
Köks, Sulev (University of Tartu)
Mrowietz, Ulrich (University Medical Center Schleswig-Holstein)
Puig Sanz, Lluís (Institut d'Investigació Biomèdica Sant Pau)
Reynolds, Nick (Newcastle Hospitals NHS Foundation Trust)
Tan, Euegene Sern-Ting (National Skin Centre)
Tanew, Adrian (Medical University of Vienna)
Torz, Kaspar (Campus Kiel)
Trattner, Hannes (Medical University of Vienna)
Valentine, Mark (University of Washington School of Medicine)
Wahie, Shyamal (University Hospital of North Durham and Darlington Memorial Hospital)
Warren, Richard B. (University of Manchester and the Academic Health Science Centre)
Wright, Andrew (St University of Bradford)
Bata-Csörgő, Zsuzsa (University of Szeged)
Szell, Marta (University of Szeged)
Griffiths, Christopher E.M. (University of Manchester and the Academic Health Science Centre)
Burden, A.David (University of Glasgow)
Choon, Siew-Eng (Monash University Malaysia)
Smith, Catherine H. (King's College London)
Barker, Jonathan N. (King's College London)
Navarini, Alexander A. (University Hospital Zurich (Suïssa))
Capon, Francesca (King's College London)
Universitat Autònoma de Barcelona

Date:	2019
Abstract:	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. We sought to characterize the clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort. 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. Psoriasis vulgaris concurrence was lowest in PPP (15. 8% vs 54. 4% in GPP and 46. 2% in ACH, P <. 0005 for both), whereas the mean age of onset was earliest in GPP (31. 0 vs 43. 7 years in PPP and 51. 8 years in ACH, P <. 0001 for both). The percentage of female patients was greater in PPP (77. 0%) than in GPP (62. 5%; P = 5. 8 × 10 ). The same applied to the prevalence of smokers (79. 8% vs 28. 3%, P < 10 ). Although AP1S3 alleles had similar frequency (0. 03-0. 05) across disease subtypes, IL36RN mutations were less common in patients with PPP (0. 03) than in those with GPP (0. 19) and ACH (0. 16; P = 1. 9 × 10 and. 002, respectively). Importantly, IL36RN disease alleles had a dose-dependent effect on age of onset in all forms of pustular psoriasis (P =. 003). The analysis of an unparalleled resource revealed key clinical and genetic differences between patients with PPP and those with GPP.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Generalized pustular psoriasis ; Palmoplantar pustulosis ; Acrodermatitis continua of Hallopeau ; IL36RN ; AP1S3 ; Genotype-phenotype correlation
Published in:	The Journal of Allergy and Clinical Immunology, Vol. 143 Núm. 3 (march 2019) , p. 1021-1026, ISSN 1097-6825

DOI: 10.1016/j.jaci.2018.06.038
PMID: 30036598

6 p, 377.9 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
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