Tuesday, November 20, 2012

Filaggrin mutations cause distinct pattern of eczema in children

The giant protein filaggrin has several vital functions in skin. People with mutated copies of the filaggrin gene (FLG) are at risk of developing eczema that begins earlier and is more severe than usual. A new population study by Danish scientists (published in the journal PLoS ONE) now shows that children with FLG mutations develop a distinct variety of eczema, with emphasis on exposed areas such as the cheeks and the backs of the hands.

The research, led by Hans Bisgaard at the University of Copenhagen, could in the future help doctors diagnose children at risk of developing eczema and design personalized treatment for them—including therapy that could change the course of the disease.

The researchers analyzed data from the Copenhagen Study on Asthma in Childhood, which comprised 411 children born to mothers with asthma and followed them over the course of seven years, with checkups every six months (or more often, if eczema flares warranted). The scientists tested DNA from the children, checking to see if they had one of the two most common FLG mutations, known as R501X and 2282del4.

The results were not as cleancut as one might like. Roughly 15% of the 170 children who developed eczema had FLG mutations. But so did 7% of the 212 children who did not develop eczema. So clearly having mutated FLG does not guarantee eczema, and there are other factors at work to compensate for the mutation or cause disease to develop even if you have good filaggrin.

The researchers found that, in general, short- and long-term symptoms of eczema were worse in children with mutated FLG; and the disease set in earlier and flares tended to cluster in certain areas, most importantly  the cheeks and backs of the hands.

What is your child’s eczema like? Or what was yours like as a child? Does it fit this pattern? I seem to remember it concentrated on the backs of my knees and the insides of my elbows. But over the years it has moved around a lot. Maybe we will see scientists develop a catalog of eczema subtypes caused by known mutations.


  1. Interesting article, but keep in mind that several experts believe a candida yeast (fungal) overgrowth within the intestinal tract is potentially also a contributor of eczema in both children and adults.

  2. Thanks for sharing this. very informative.

  3. Eczema occurs more often in people with families histories of hay fever, allergies, asthma. In other cases, eczema may be situational. To avoid further irritation of the skin, wear natural fabrics, nonirritating fibers, avoid irritating substances, excess chemicals, and scented fabric softeners.

  4. Excellent post. I agree that you need to wear clothes that doesn't irritate the condition and also avoid certain foods.

  5. Thanks for this interesting article and all of you who have commented to this important subject. I had never heard of this skin condition until my baby boy of 6 months now developed some rush which which later dried out leaving broken dry skin all around the body. This time its concentrated around the knees and elbow. Doctors here in Zambia (Africa) will only tell you to research and then I knew it was a complex situation...