Clinical and genetic differences between pustular psoriasis subtypes.
AP1S3
Generalized pustular psoriasis
IL36RN
acrodermatitis continua of Hallopeau
genotype-phenotype correlation
palmoplantar pustulosis
Journal
The Journal of allergy and clinical immunology
ISSN: 1097-6825
Titre abrégé: J Allergy Clin Immunol
Pays: United States
ID NLM: 1275002
Informations de publication
Date de publication:
03 2019
03 2019
Historique:
received:
02
02
2018
revised:
14
05
2018
accepted:
15
06
2018
pubmed:
24
7
2018
medline:
17
3
2020
entrez:
24
7
2018
Statut:
ppublish
Résumé
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 analysis of an unparalleled resource revealed key clinical and genetic differences between patients with PPP and those with GPP.
Sections du résumé
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 < .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
CONCLUSIONS
The analysis of an unparalleled resource revealed key clinical and genetic differences between patients with PPP and those with GPP.
Identifiants
pubmed: 30036598
pii: S0091-6749(18)31039-X
doi: 10.1016/j.jaci.2018.06.038
pmc: PMC6403101
pii:
doi:
Substances chimiques
AP1S3 protein, human
0
IL36RN protein, human
0
Interleukins
0
Vesicular Transport Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1021-1026Subventions
Organisme : Department of Health
ID : EME/13/50/17
Pays : United Kingdom
Organisme : Department of Health
ID : EME 13/50/17
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S003126/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L011808/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N005872/1
Pays : United Kingdom
Commentaires et corrections
Type : CommentIn
Type : CommentIn
Informations de copyright
Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.
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