Clinical phenotypes and endophenotypes of atopic dermatitis: Where are we, and where should we go?
Thomas Bieber,Thomas Bieber,Angelo Massimiliano D'Erme,Cezmi A. Akdis,Claudia Traidl-Hoffmann,Roger Lauener,Georg Schäppi,Peter Schmid-Grendelmeier +7 more
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TLDR
A systems biology approach merging the numerous clinical phenotypes with robust biomarkers will be needed to best exploit their potential significance for the future molecular taxonomy of AD.Abstract:
Atopic dermatitis (AD) is a paradigmatic chronic inflammatory skin disease characterized by a complex pathophysiology and a wide spectrum of the clinical phenotype. Despite this high degree of heterogeneity, AD is still considered a single disease and usually treated according to the "one-size-fits-all" approach. Thus more tailored prevention and therapeutic strategies are still lacking. As for other disciplines, such as oncology or rheumatology, we have to approach AD in a more differentiated way (ie, to dissect and stratify the complex clinical phenotype into more homogeneous subgroups based on the endophenotype [panel of biomarkers]) with the aim to refine the management of this condition. Because we are now entering the era of personalized medicine, a systems biology approach merging the numerous clinical phenotypes with robust (ie, relevant and validated) biomarkers will be needed to best exploit their potential significance for the future molecular taxonomy of AD. This approach will not only allow an optimized prevention and treatment with the available drugs but also hopefully help assign newly developed medicinal products to those patients who will have the best benefit/risk ratio.read more
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Journal ArticleDOI
Effectiveness and safety of dupilumab in adolescents with moderate-to-severe atopic dermatitis: a preliminary report of real-world data.
Silvia Ferrucci,Carlo Alberto Maronese,Simona Tavecchio,Luisa Angileri,Giovanni Genovese,Angelo V. Marzano +5 more
Journal ArticleDOI
Innate Immune Regulation of Dermatitis.
Damien Abreu,Brian S. Kim +1 more
TL;DR: In this paper, the discovery of human Mas-related G protein-coupled receptor X2 on mast cells has revealed novel T cell-independent and immunoglobulin E-independent mechanisms of allergic contact dermatitis-associated and urticarial itch, respectively.
Book ChapterDOI
Endophenotype and Biomarker
Kwang Hoon Lee,Chang Ook Park +1 more
TL;DR: There is an increasing demand for the classification of new phenotypes that reflect the heterogeneity of AD and there is no precise preventive or therapeutic approach to atopic dermatitis.
Journal ArticleDOI
Expanding the phenotype and endophenotype of AD
TL;DR: The elderly patients with AD are examined and it turns out that the elderly has a different distribution pattern of eczematous lesions compared to children, demonstrating that AD is a present and heterogenous disease including the elderly population, but it also an important step towards personalized medicine and a better taxonomy for AD.
Journal ArticleDOI
Atopic march in children with early-onset atopic dermatitis: A retrospective study
TL;DR: In this article , a study was conducted to elucidate the course of allergic diseases between 3-7 years of age in patients with atopic dermatitis in the first 2 years of life.
References
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TL;DR: Biomarker measurements provide an avenue for researchers to gain a mechanistic understanding of the differences in clinical response that may be influenced by uncontrolled variables (for example, drug metabolism).
Journal ArticleDOI
The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions
TL;DR: The authors discuss the etymology and strategy behind the use of endophenotypes in neuropsychiatric research and, more generally, in research on other diseases with complex genetics.
Journal ArticleDOI
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Colin N. A. Palmer,Alan D. Irvine,Ana Terron-Kwiatkowski,Yiwei Zhao,Haihui Liao,Simon P. Lee,David Goudie,Aileen Sandilands,Linda E. Campbell,Frances J.D. Smith,Grainne M. O'Regan,Rosemarie Watson,Jo E Cecil,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Philip Fleckman,Sue Lewis-Jones,Gehan Arseculeratne,Ann Sergeant,Colin S. Munro,Brahim El Houate,Ken McElreavey,Liselotte Brydensholt Halkjaer,Hans Bisgaard,Somnath Mukhopadhyay,Somnath Mukhopadhyay,W.H. Irwin McLean +28 more
TL;DR: It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis.
Journal ArticleDOI
Two Phase 3 Trials of Dupilumab versus Placebo in Atopic Dermatitis
Eric L. Simpson,Thomas Bieber,Emma Guttman-Yassky,Lisa A. Beck,Andrew Blauvelt,Michael J. Cork,Jonathan I. Silverberg,Mette Deleuran,Yoko Kataoka,Jean-Philippe Lacour,Külli Kingo,Margitta Worm,Margitta Worm,Yves Poulin,Andreas Wollenberg,Yuhwen Soo,Neil M.H. Graham,Gianluca Pirozzi,Bolanle Akinlade,Heribert Staudinger,Vera Mastey,Laurent Eckert,Abhijit Gadkari,Neil Stahl,George D. Yancopoulos,Marius Ardeleanu +25 more
TL;DR: Dupilumab improved the signs and symptoms of atopic dermatitis, including pruritus, symptoms of anxiety and depression, and quality of life, as compared with placebo in two phase 3 trials of identical design.
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Two Phase 3 Trials of Dupilumab versus Placebo in Atopic Dermatitis
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Dupilumab treatment in adults with moderate-to-severe atopic dermatitis.
Lisa A. Beck,Diamant Thaçi,Jennifer D. Hamilton,Neil M.H. Graham,Thomas Bieber,Ross E. Rocklin,Jeffrey Ming,Haobo Ren,Richard Kao,Eric L. Simpson,Marius Ardeleanu,Steven P. Weinstein,Gianluca Pirozzi,Emma Guttman-Yassky,Mayte Suárez-Fariñas,Melissa D. Hager,Neil Stahl,George D. Yancopoulos,Allen Radin +18 more
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Colin N. A. Palmer,Alan D. Irvine,Ana Terron-Kwiatkowski,Yiwei Zhao,Haihui Liao,Simon P. Lee,David Goudie,Aileen Sandilands,Linda E. Campbell,Frances J.D. Smith,Grainne M. O'Regan,Rosemarie Watson,Jo E Cecil,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Philip Fleckman,Sue Lewis-Jones,Gehan Arseculeratne,Ann Sergeant,Colin S. Munro,Brahim El Houate,Ken McElreavey,Liselotte Brydensholt Halkjaer,Hans Bisgaard,Somnath Mukhopadhyay,Somnath Mukhopadhyay,W.H. Irwin McLean +28 more