Highly accurate, noninvasive early identification of infants with a filaggrin loss-of-function mutation by in vivo Raman spectroscopy, followed from birth to 12 months

Highly accurate, noninvasive early identification of infants with a filaggrin loss-of-function mutation by in vivo Raman spectroscopy, followed from birth to 12 months

Annals of Allergy, Asthma & Immunology

10.1016/j.anai.2025.01.010

https://doi.org/10.1016/j.anai.2025.01.010

Gerwin J. Puppels, Jonathan O'B. Hourihane, Claudio Nico, Carol Ni Chaoimh, Colin Wong, John E. Common, Peter J. Caspers, Alan D. Irvine

17 January 2025

Puppels, G. J., Hourihane, J. O., Nico, C., Chaoimh, C. N., Wong, C., Common, J. E., Caspers, P. J., & Irvine, A. D. (2025). Highly accurate, noninvasive early identification of infants with a filaggrin loss-of-function mutation by in vivo Raman spectroscopy, followed from birth to 12 months. Annals of Allergy, Asthma & Immunology, 134(4), 457–464. https://doi.org/10.1016/j.anai.2025.01.010

Loss-of-function FLG mutation (FLGmut) carriers are at an increased risk of developing atopic dermatitis (AD), characterized by earlier onset and more severe disease. AD is driven by a complex interplay between skin barrier function, TH2 and TH2-dominant immune dysregulation, and dysbiosis. Results from the Short-Term Topical Application for Prevention of Atopic Dermatitis study suggest 2 early initiating AD pathogenetic pathways: an FLGmut-related skin barrier deficiency pathway and an immune function-related inflammatory pathway. The Short-Term Topical Application for Prevention of Atopic Dermatitis study suggested that early preventative intervention with specialized emollients for barrier function augmentation may benefit newborns with FLGmut. This requires early identification of FLGmut carriers, for which noninvasive Raman spectroscopic determination of natural moisturizing factor (NMF) levels in the stratum corneum of the thenar eminence provides a surrogate marker.

Attribution 4.0 International (CC BY 4.0)

This research / project is supported by the Skin Research Institute of Singapore/Biomedical Research Council Central Research Funds - Central Research Funds
Grant Reference no. : A*STAR-BMRC-EDBH17/01/a0/004

© 2025 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. This is an open access article under the CC BY license

https://oar.a-star.edu.sg/communities-collections/articles/21733

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