Do you have a mutation in your genes?

This question is suddenly relevant if one suffers from eczema or has problems with dry skin.

Research has shown that a change in the genes makes some people develop a lack of the protein filaggrin in the skin.

Important building block
The protein is necessary to maintain healthy skin and the discovery is one of the greatest advances in the understanding of childhood eczema, also called atopic eczema, which affects about one in five children in Denmark.

Intact skin protects against bacteria and prevents viruses from entering the body causing infections, and protects against chemicals and temperature variations. In addition the skin helps to retain body moisture and heat.

Lack of filaggrin makes skin leak like a sieve - the skin becomes less able to protect against the outside environment and also less able to retain water.

The mutation is common
Approximately nine per cent of the Danish population has a filaggrin mutation. This means that they can have problems with dry skin and that the risk of developing atopic eczema is increased.

The mutation, which shuts down the filaggrin production, is hereditary and congenital. It's not something you can develop later in life or remove from the body.

Throughout life, people with filaggrin deficiency will have fragile skin. Since the mutation is hereditary there is also risk that their children may inherit it.

Increases the risk of severe eczema
As many as 50 percent of those who suffer from atopic dermatitis lack filaggrin in the skin.

Because environmental factors also come into play, you can develop atopic eczema, although the skin contains normal amounts of filaggrin. But the risk is greater if you're lacking the protein.

If a child with atopic eczema has a filaggrin mutation, it's harder for that child to grow out of its eczema, when compared to children with normal amounts of protein in the skin. Filaggrin deficiency also increases the risk of having severe eczema.

The discovery important for treatment

The discovery of what filaggrin deficiency means for atopic eczema is important both to the understanding of the disease and for developing new and more targeted treatments.

Until recently it was in Denmark is not possible to screen for filaggrin deficiency. But the National Allergy Research Centre and the Dermatology Department at Gentofte Hospital in collaboration with doctors from the hospital's biochemistry department have now developed a screening method by using an ordinary blood test.

Other dermatology departments and private practice dermatologists may also send blood samples to Gentofte Hospital to have them investigated.

The National Allergy Research Centre intensifies its research into the importance of filaggrin deficiency in the skin.

Read more:

About the filaggrin research
About skin


This article was published on www.videnskab.dk and was written by Berit C. Carlsen, MD and PhD

The National Allergy Research Centre, Gentofte Hospital.