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Clinical and genetic differences between pustular psoriasis subtypes

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Clinical and genetic differences between pustular psoriasis subtypes. / Twelves, Sophie; Mostafa, Alshimaa; Dand, Nick; Burri, Elias; Farkas, Katalin; Wilson, Rosemary; Cooper, Hywel L.; Irvine, Alan D.; Oon, Hazel H.; Kingo, Külli; Köks, Sulev; Mrowietz, Ulrich; Puig, Luis; Reynolds, Nick; Sern-Ting Tan, Eugene; Tanew, Adrian; Torz, Kaspar; Trattner, Hannes; Valentine, Mark; Wahie, Shyamal; Warren, Richard B.; Wright, Andrew; Bata-Csörgő, Zsuzsa; Szell, Marta; Griffiths, Christopher EM.; Burden, A David; Choon, Siew-Eng; Smith, Catherine H.; Barker, Jonathan N.; Navarini, Alexander A.; Capon, Francesca.

In: Journal of Allergy and Clinical Immunology, 2018.

Research output: Contribution to journalArticle

Harvard

Twelves, S, Mostafa, A, Dand, N, Burri, E, Farkas, K, Wilson, R, Cooper, HL, Irvine, AD, Oon, HH, Kingo, K, Köks, S, Mrowietz, U, Puig, L, Reynolds, N, Sern-Ting Tan, E, Tanew, A, Torz, K, Trattner, H, Valentine, M, Wahie, S, Warren, RB, Wright, A, Bata-Csörgő, Z, Szell, M, Griffiths, CEM, Burden, AD, Choon, S-E, Smith, CH, Barker, JN, Navarini, AA & Capon, F 2018, 'Clinical and genetic differences between pustular psoriasis subtypes', Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2018.06.038

APA

Twelves, S., Mostafa, A., Dand, N., Burri, E., Farkas, K., Wilson, R., Cooper, H. L., Irvine, A. D., Oon, H. H., Kingo, K., Köks, S., Mrowietz, U., Puig, L., Reynolds, N., Sern-Ting Tan, E., Tanew, A., Torz, K., Trattner, H., Valentine, M., ... Capon, F. (2018). Clinical and genetic differences between pustular psoriasis subtypes. Journal of Allergy and Clinical Immunology. https://doi.org/10.1016/j.jaci.2018.06.038

Vancouver

Twelves S, Mostafa A, Dand N, Burri E, Farkas K, Wilson R et al. Clinical and genetic differences between pustular psoriasis subtypes. Journal of Allergy and Clinical Immunology. 2018. https://doi.org/10.1016/j.jaci.2018.06.038

Author

Twelves, Sophie ; Mostafa, Alshimaa ; Dand, Nick ; Burri, Elias ; Farkas, Katalin ; Wilson, Rosemary ; Cooper, Hywel L. ; Irvine, Alan D. ; Oon, Hazel H. ; Kingo, Külli ; Köks, Sulev ; Mrowietz, Ulrich ; Puig, Luis ; Reynolds, Nick ; Sern-Ting Tan, Eugene ; Tanew, Adrian ; Torz, Kaspar ; Trattner, Hannes ; Valentine, Mark ; Wahie, Shyamal ; Warren, Richard B. ; Wright, Andrew ; Bata-Csörgő, Zsuzsa ; Szell, Marta ; Griffiths, Christopher EM. ; Burden, A David ; Choon, Siew-Eng ; Smith, Catherine H. ; Barker, Jonathan N. ; Navarini, Alexander A. ; Capon, Francesca. / Clinical and genetic differences between pustular psoriasis subtypes. In: Journal of Allergy and Clinical Immunology. 2018.

Bibtex Download

@article{275ce21517f7498ea64030772024a2f0,
title = "Clinical and genetic differences between pustular psoriasis subtypes",
abstract = "BackgroundThe term pustular psoriasis indicates a group of severe skin disorders characterised by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris (PV), can have an acute systemic (generalised pustular psoriasis, GPP) or chronic localised presentation (palmoplantar pustulosis, PPP; acrodermatitis continua of Hallopeau, ACH). While mutations have been uncovered in IL36RN and AP1S3, the rarity of the disease has hindered the study of genotype-phenotype correlations.ObjectiveWe sought to characterise clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort.MethodsWe ascertained a dataset of unprecedented size, including 863 unrelated patients (251 GPP, 560 PPP, 28 ACH, 24 multiple diagnoses). We undertook mutation screening in 473 cases.ResultsPV concurrence was lowest in PPP (15.8% vs. 54.4% in GPP and 46.2% in ACH, P<0.0005 for both), whereas mean age of onset was earliest in GPP (31.0 years vs. 43.7 in PPP and 51.8 in ACH, P<0.0001 for both). The percentage of females was higher in PPP (77.0%) than GPP (62.5%) (P=5.8x10-5). The same applied to the prevalence of smokers (79.8% vs 28.3%, P<10-15). While AP1S3 alleles had similar frequency (0.03-0.05) across disease subtypes, IL36RN mutations were less common in PPP (0.03) than GPP (0.19) and ACH (0.16) (P=1.9x10-14 and 0.002, respectively). Importantly, IL36RN disease alleles had a dose-dependent effect on age of onset, in all forms of pustular psoriasis (P=0.003).ConclusionsThe analysis of an unparalleled patient resource revealed key clinical and genetic differences between PPP and GPP.",
keywords = "Generalised pustular psoriasis, palmoplantar pustulosis, acrodermatitis continua of Hallopeau, genotype-phenotype correlation",
author = "Sophie Twelves and Alshimaa Mostafa and Nick Dand and Elias Burri and Katalin Farkas and Rosemary Wilson and Cooper, {Hywel L.} and Irvine, {Alan D.} and Oon, {Hazel H.} and K{\"u}lli Kingo and Sulev K{\"o}ks and Ulrich Mrowietz and Luis Puig and Nick Reynolds and {Sern-Ting Tan}, Eugene and Adrian Tanew and Kaspar Torz and Hannes Trattner and Mark Valentine and Shyamal Wahie and Warren, {Richard B.} and Andrew Wright and Zsuzsa Bata-Cs{\"o}rg{\H o} and Marta Szell and Griffiths, {Christopher EM.} and Burden, {A David} and Siew-Eng Choon and Smith, {Catherine H.} and Barker, {Jonathan N.} and Navarini, {Alexander A.} and Francesca Capon",
year = "2018",
doi = "10.1016/j.jaci.2018.06.038",
language = "English",
journal = "Journal of Allergy and Clinical Immunology",
issn = "0091-6749",
publisher = "MOSBY, INC",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Clinical and genetic differences between pustular psoriasis subtypes

AU - Twelves, Sophie

AU - Mostafa, Alshimaa

AU - Dand, Nick

AU - Burri, Elias

AU - Farkas, Katalin

AU - Wilson, Rosemary

AU - Cooper, Hywel L.

AU - Irvine, Alan D.

AU - Oon, Hazel H.

AU - Kingo, Külli

AU - Köks, Sulev

AU - Mrowietz, Ulrich

AU - Puig, Luis

AU - Reynolds, Nick

AU - Sern-Ting Tan, Eugene

AU - Tanew, Adrian

AU - Torz, Kaspar

AU - Trattner, Hannes

AU - Valentine, Mark

AU - Wahie, Shyamal

AU - Warren, Richard B.

AU - Wright, Andrew

AU - Bata-Csörgő, Zsuzsa

AU - Szell, Marta

AU - Griffiths, Christopher EM.

AU - Burden, A David

AU - Choon, Siew-Eng

AU - Smith, Catherine H.

AU - Barker, Jonathan N.

AU - Navarini, Alexander A.

AU - Capon, Francesca

PY - 2018

Y1 - 2018

N2 - BackgroundThe term pustular psoriasis indicates a group of severe skin disorders characterised by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris (PV), can have an acute systemic (generalised pustular psoriasis, GPP) or chronic localised presentation (palmoplantar pustulosis, PPP; acrodermatitis continua of Hallopeau, ACH). While mutations have been uncovered in IL36RN and AP1S3, the rarity of the disease has hindered the study of genotype-phenotype correlations.ObjectiveWe sought to characterise clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort.MethodsWe ascertained a dataset of unprecedented size, including 863 unrelated patients (251 GPP, 560 PPP, 28 ACH, 24 multiple diagnoses). We undertook mutation screening in 473 cases.ResultsPV concurrence was lowest in PPP (15.8% vs. 54.4% in GPP and 46.2% in ACH, P<0.0005 for both), whereas mean age of onset was earliest in GPP (31.0 years vs. 43.7 in PPP and 51.8 in ACH, P<0.0001 for both). The percentage of females was higher in PPP (77.0%) than GPP (62.5%) (P=5.8x10-5). The same applied to the prevalence of smokers (79.8% vs 28.3%, P<10-15). While AP1S3 alleles had similar frequency (0.03-0.05) across disease subtypes, IL36RN mutations were less common in PPP (0.03) than GPP (0.19) and ACH (0.16) (P=1.9x10-14 and 0.002, respectively). Importantly, IL36RN disease alleles had a dose-dependent effect on age of onset, in all forms of pustular psoriasis (P=0.003).ConclusionsThe analysis of an unparalleled patient resource revealed key clinical and genetic differences between PPP and GPP.

AB - BackgroundThe term pustular psoriasis indicates a group of severe skin disorders characterised by eruptions of neutrophil-filled pustules. The disease, which often manifests with concurrent psoriasis vulgaris (PV), can have an acute systemic (generalised pustular psoriasis, GPP) or chronic localised presentation (palmoplantar pustulosis, PPP; acrodermatitis continua of Hallopeau, ACH). While mutations have been uncovered in IL36RN and AP1S3, the rarity of the disease has hindered the study of genotype-phenotype correlations.ObjectiveWe sought to characterise clinical and genetic features of pustular psoriasis through the analysis of an extended patient cohort.MethodsWe ascertained a dataset of unprecedented size, including 863 unrelated patients (251 GPP, 560 PPP, 28 ACH, 24 multiple diagnoses). We undertook mutation screening in 473 cases.ResultsPV concurrence was lowest in PPP (15.8% vs. 54.4% in GPP and 46.2% in ACH, P<0.0005 for both), whereas mean age of onset was earliest in GPP (31.0 years vs. 43.7 in PPP and 51.8 in ACH, P<0.0001 for both). The percentage of females was higher in PPP (77.0%) than GPP (62.5%) (P=5.8x10-5). The same applied to the prevalence of smokers (79.8% vs 28.3%, P<10-15). While AP1S3 alleles had similar frequency (0.03-0.05) across disease subtypes, IL36RN mutations were less common in PPP (0.03) than GPP (0.19) and ACH (0.16) (P=1.9x10-14 and 0.002, respectively). Importantly, IL36RN disease alleles had a dose-dependent effect on age of onset, in all forms of pustular psoriasis (P=0.003).ConclusionsThe analysis of an unparalleled patient resource revealed key clinical and genetic differences between PPP and GPP.

KW - Generalised pustular psoriasis

KW - palmoplantar pustulosis

KW - acrodermatitis continua of Hallopeau

KW - genotype-phenotype correlation

UR - http://www.scopus.com/inward/record.url?scp=85051522281&partnerID=8YFLogxK

U2 - 10.1016/j.jaci.2018.06.038

DO - 10.1016/j.jaci.2018.06.038

M3 - Article

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 0091-6749

ER -

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