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Skin Barrier Dysfunction Mutations Vary by Race, Disease Persistence in Children With AD

Key clinical point: Genetic variants associated with skin barrier dysfunction varied significantly by race and by influence on disease persistence in a cohort of children with atopic dermatitis

Major finding: White children were more than twice as likely as African American children to harbor a filaggrin gene loss of function. Some variations were more common in white children, while others were exclusively found in African American children.

Study details: An analysis of DNA from 714 children enrolled in the Pediatric Eczema Elective Registry.

Disclosures: The study was supported by a grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases. The Pediatric Eczema Elective Registry cohort is funded by Valeant Pharmaceuticals. The lead author reported receiving research funding as the principal investigator via the trustees of the University of Pennsylvania, and receiving funding from the National Institutes of Health and Valeant; disclosures not related to the study included consulting activities primarily as a member of a data monitoring or scientific advisory boards for several pharmaceutical companies.


Margolis DJ et al. JAMA Dermatol. 2019 Jul 31. doi: 10.1011/jamadermatol.2019.1946.


Filaggrin metabolism is one key to the maintenance of an intact stratum corneum. Profilaggrin molecules are cleaved into filaggrin, which is further broken down into critical components of “natural moisturizing factor” which is essential for water balance in the skin. Many genetic defects can disturb steps in this pathway, the most severe of which are seen in patients with severe AD and/or some forms of ichthyosis. This report has added to our understanding of the variations in filaggrin metabolism based on racial and ethnic considerations.— Joseph Fowler, Jr., MD, Clinical Professor of Dermatology, University of Louisville, KY