Researchers are building their understanding of the genetic components of atopic dermatitis. This work may have implications for the treatment, screening, and prevention of the condition.

Atopic dermatitis is one of the most common skin conditions around the world.

Symptoms include dry skin and intense itchiness. Atopic dermatitis can affect many aspects of someone’s well-being, including their sleep and mental health.

Most people with atopic dermatitis develop it during early childhood, and it persists into adulthood. The condition may improve with time for some people.

Risk factors include a family history of atopic dermatitis or other allergy-related conditions, such as asthma or food allergies.

This article explains testing for eczema, including how genetics are involved and the implications for treatment.

A line of test tubes used for eczema genetic testing.-1Share on Pinterest
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Environmental and genetic factors can cause abnormalities in the integrity of the skin barrier and immune system.

The skin acts as a barrier that prevents microbes and allergens from entering the body. Any damage to the barrier allows irritants to get deeper into the skin, causing inflammation, discoloration, and itchiness.

A disrupted skin barrier also allows water to escape more easily. This is why people with atopic dermatitis often experience dry skin and use moisturizers to relieve symptoms.

Research has linked skin barrier disruption to specific genes, including filaggrin (FLG) and KIF3A. Mutations in either of these genes disrupt connections between skin cells, leading to a functional breakdown of the skin’s protective barrier.

Immune system dysregulation

Mutations in immune-related genes may also occur in people with atopic dermatitis or increase the risk of developing this condition.

Immune system dysregulation causes widespread inflammation throughout the body. This damages the integrity of the skin barrier and worsens the symptoms of atopic dermatitis.

This model may help explain why people with atopic dermatitis have an increased risk of developing other diseases resulting from inflammation, including:

  • asthma
  • food allergies
  • allergic rhinitis
  • heart disease
  • diabetes
  • infections
  • mental health conditions, such as depression

Mutations in various immune-related genes may play a role in atopic dermatitis, particularly those encoding proteins involved in fighting off infections.

As the genetic implications of atopic dermatitis have become more evident, researchers have developed various new agents that specifically target the immune factors involved in atopic dermatitis.

These agents target specific processes involved in the development of the disease. This means they may offer better control of symptoms. They may also cause fewer side effects than current systemic therapies, which broadly suppress the immune system.

Scientists are still investigating many of these agents. However, because they now have a better understanding of the genetics and biology of atopic dermatitis, the Food and Drug Administration (FDA) has already approved several treatments, including:

  • dupilumab (Dupixent)
  • tralokinumab (Adbry)
  • upadacitinib (Rinvoq)
  • abrocitinib (Cibinqo)

Doctors do not currently consider genetic testing when determining treatment for atopic dermatitis. However, this may change as more targeted treatment options receive FDA approval and dermatologists recommend more personalized therapy.

Doctors do not routinely conduct genetic testing for children or adults with skin conditions. However, a better understanding of the genetics of atopic dermatitis and the possible implications for treatment may change this in the future.

The diversity of mutations involved in atopic dermatitis may complicate personalized treatment approaches. Mutations in the FLG gene are among the strongest predictors of atopic dermatitis, and researchers have identified at least 16 different mutations in this gene alone.

It is possible that no single mutation causes the disease and that multiple mutations may make a person increasingly susceptible to inflammation and breakdown of the skin barrier.

Screening for atopic dermatitis

However, given the association between atopic dermatitis and other diseases, researchers have proposed screening infants for mutations associated with atopic dermatitis.

Doing so may help parents or caregivers and healthcare teams take measures to prevent atopic dermatitis and its associated conditions.

Some commercial at-home genetic testing kits check for allergies and allergic diseases such as atopic dermatitis are available. However, it is important to remember that the FDA has not validated all these tests.

People who opt to use at-home genetic tests may benefit from discussing the results and implications with a healthcare professional.

Studies on the genetics of atopic dermatitis have revealed important insights into the mechanisms of disease, which has led to the development of new targeted medications.

More targeted treatment options are on the horizon, and healthcare professionals are showing great interest in using genetic information to guide treatment decision-making in the future.

As research continues, genetic testing may help identify people who have an increased risk of atopic dermatitis. These individuals may benefit from proactive, intensive care to help maintain their skin health.