Atopic dermatitis (AD) is a common, chronic skin condition that many, especially children, experience firsthand. If you or someone you know has dealt with AD, you understand the endless itching, dry patches, and irritation. However, there's more beneath the surface - much of the story lies in our skin's genes. A critical protein in our skin's outermost layer, filaggrin, keeps the skin barrier intact and hydrated. Filaggrin acts like the 'glue' for skin cells, sealing in moisture while keeping irritants out.
Research has shown that mutations in the filaggrin (FLG) gene are found in a significant percentage of people with moderate-to-severe AD, making their skin less able to retain moisture and resist allergens. This weakens the protective barrier, leading to AD's classic symptoms: dryness, itching, and inflammation.
Detecting FLG mutations, especially in children, could be a key factor in improving the management of the condition. Studies have shown that children who carry this mutation are also prone to developing other allergic conditions like asthma, in addition to having long-lasting AD.
As the knowledge of the human genome and its sequencing increases daily, the medical community is actively focusing on personalized treatment based on the patient's genetic profile, and we can see the same happening with AD. The focus should be on bridging the gaps brought about in the skin by the dysfunctional protein. The use of specific emollients and moisturizers, and even topical corticosteroids to battle the inflammation, could prove effective.
Although mutational analysis of the FLG gene lets us peek into the skin to understand the characteristic presentation of AD, it is not yet a part of the routine clinical workup. More research needs to be done to understand the effects of the mutation on drug response.
References:
- Rajeshwari, K. A., Thomas, M. M., & Nagaraj, G. (2023). Filaggrin gene mutation in pediatric patients with atopic dermatitis: A look into the Indian gene pool, a pilot study. Indian Journal of Dermatology, 68(2), 135–140.
- Moosbrugger-Martinz, V., Leprince, C., Méchin, M. C., Simon, M., Blunder, S., Gruber, R., & Dubrac, S. (2022). Revisiting the Roles of Filaggrin in Atopic Dermatitis. International journal of molecular sciences, 23(10), 5318.
- Drislane, C., & Irvine, A. D. (2019). The role of filaggrin in atopic dermatitis and allergic disease. Annals of Allergy Asthma & Immunology, 124(1), 36–43.
Dr. Merin M Thomas
Visiting Assistant Professor of Anatomy,
Department of Biomedical Sciences,
College of Health Sciences,
Abu Dhabi University