Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.


Journal

The British journal of dermatology
ISSN: 1365-2133
Titre abrégé: Br J Dermatol
Pays: England
ID NLM: 0004041

Informations de publication

Date de publication:
24 05 2023
Historique:
received: 13 09 2022
revised: 07 02 2023
accepted: 13 02 2023
medline: 26 5 2023
pubmed: 26 2 2023
entrez: 25 2 2023
Statut: ppublish

Résumé

Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG). To explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoF FLG variants. A cross-sectional study with participants recruited between May 2018 and December 2020. Patterns of palmar linearity were categorized and modelled with the Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoF FLG variants. There were 506 complete cases available. Five palm patterns were noted. The 'prominent diamond' pattern associated best with EASI [marginal effects (ME) 2.53, 95% confidence interval (CI) 1.74-3.67], SH (ME 0.85, 95% CI 0.78-0.96) and TEWL (ME 1.32, 95% CI 1.11-1.62). Using five palm patterns had some ability to discriminate LoF FLG variants [area under the receiver operator characteristic (AUROC) 76.32%, 95% CI 71.91-80.73], improving to 77.99% (73.70-82.28) with the addition of SH. In subgroup analysis with only fine perpendicular/prominent diamond patterns the AUROC was 89.11% (95% CI 84.02-94.19). This was a single-centre study design with humans classifying clinical patterns. The stability of temperature and humidity was not guaranteed across TEWL and SH measurements despite using a climate-controlled room. Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect the absence/presence of LoF FLG variants, respectively.

Sections du résumé

BACKGROUND
Hyperlinear palms are described as a feature of loss-of-function (LoF) variants in filaggrin (FLG).
OBJECTIVES
To explore the phenotype of participants (age < 31 years) with atopic eczema of Bangladeshi ancestry from East London and investigate which factors best associate with LoF FLG variants.
METHODS
A cross-sectional study with participants recruited between May 2018 and December 2020. Patterns of palmar linearity were categorized and modelled with the Eczema Area and Severity Index (EASI), transepidermal water loss (TEWL), skin hydration (SH) and LoF FLG variants.
RESULTS
There were 506 complete cases available. Five palm patterns were noted. The 'prominent diamond' pattern associated best with EASI [marginal effects (ME) 2.53, 95% confidence interval (CI) 1.74-3.67], SH (ME 0.85, 95% CI 0.78-0.96) and TEWL (ME 1.32, 95% CI 1.11-1.62). Using five palm patterns had some ability to discriminate LoF FLG variants [area under the receiver operator characteristic (AUROC) 76.32%, 95% CI 71.91-80.73], improving to 77.99% (73.70-82.28) with the addition of SH. In subgroup analysis with only fine perpendicular/prominent diamond patterns the AUROC was 89.11% (95% CI 84.02-94.19).
CONCLUSIONS
This was a single-centre study design with humans classifying clinical patterns. The stability of temperature and humidity was not guaranteed across TEWL and SH measurements despite using a climate-controlled room. Palm patterns associate with EASI and TEWL. The fine perpendicular/prominent diamond patterns are markers to detect the absence/presence of LoF FLG variants, respectively.

Identifiants

pubmed: 36840480
pii: 7058065
doi: 10.1093/bjd/ljad036
doi:

Substances chimiques

Filaggrin Proteins 0
Intermediate Filament Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

785-792

Subventions

Organisme : Medical Research Council
ID : MR/T008040/1
Pays : United Kingdom

Commentaires et corrections

Type : CommentIn

Informations de copyright

© The Author(s) 2023. Published by Oxford University Press on behalf of British Association of Dermatologists.

Déclaration de conflit d'intérêts

Conflicts of interest E.A.O’T. has received research funding paid to the university from Kamari Pharma and Unilever, consulting fees paid to the university from Azitra Inc., Kamari Pharma, Palvella Therapeutics and Timber Pharma unrelated to this work. All other authors have no conflicts of interest to declare.

Auteurs

Bjorn R Thomas (BR)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Xiang Li Tan (XL)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.

Stefan Van Duijvenboden (S)

William Harvey Research Institute, Queen Mary University of London, London, UK.

Sarah C Hogan (SC)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Aaron J Hughes (AJ)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Soha S Tawfik (SS)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Sasha Dhoat (S)

Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Ravinder Atkar (R)

Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Elizabeth J Robinson (EJ)

Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Syedia R Rahman (SR)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Samiha Rahman (S)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Rehana A Ahmed (RA)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Rubina Begum (R)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Habiba Khanam (H)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

Emma L Bourne (EL)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.

Eva L Wozniak (EL)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.

Charles A Mein (CA)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.

David P Kelsell (DP)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.

Edel A O'Toole (EA)

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London, UK.
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London, UK.

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Classifications MeSH