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Filaggrin mutations in relation to skin barrier and atopic dermatitis in early infancy

A Hoyer1, E M Rehbinder2,3, M Färdig1,4

  • 1Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

The British Journal of Dermatology
|October 26, 2021
PubMed

Insights

Filaggrin (FLG) mutations are linked to eczema and atopic dermatitis (AD) in infants. While not initially impacting skin barrier function or dryness, FLG mutations increase eczema risk and localized dry skin by 3-6 months.

Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Loss-of-function mutations in the filaggrin (FLG) gene are associated with increased atopic dermatitis (AD) risk.
  • The precise role of FLG mutations in infant skin barrier function, dry skin, and eczema remains unclear.

Purpose of the Study:

  • To investigate the impact of FLG mutations on skin barrier function, dry skin, eczema, and AD in infants at 3 months and throughout the first year of life.

Main Methods:

  • Analysis of FLG mutations in 1836 infants from the Scandinavian PreventADALL study.
  • Assessment of transepidermal water loss (TEWL), dry skin, eczema, and AD at 3, 6, and 12 months of age.

Main Results:

  • FLG mutations were found in 9% of infants. At 3 months, FLG mutations were associated with eczema (OR 2.89) but not impaired skin barrier function or general dry skin.
  • By 6 months, mutation carriers exhibited significantly higher TEWL. Increased risk of dry skin on the trunk and extensor limbs was observed at 3 and 6 months in mutation carriers.
  • FLG mutations were significantly associated with the development of eczema and AD during infancy.

Conclusions:

  • FLG mutations do not initially impair skin barrier function or cause generalized dry skin in 3-month-old infants.
  • However, FLG mutations increase the risk of eczema and localized dry skin on the trunk and extensor limbs by 3-6 months of age.
  • The study confirms the association of FLG mutations with eczema and atopic dermatitis throughout infancy.
Abstract

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