Filaggrin

Dr. Lanser from NJH called this afternoon to follow up on results on the filaggrin mutation tests.
As a quick and very generalized recap, filaggrin is the skin’s glue, keeping moisture in and everything else ( germs, allergens and other chemical irritants) out. Most eczema patients have some level of decreased filaggrin in their skin. A portion of people with severe eczema have mutations on FLG, or the filaggrin gene. In addition to wet wrap therapy, those with the mutation need to constantly mimic the barrier with a moisturizer like Cetaphil Restoraderm between baths. Dr. Leung suggested we try using the lotion once Zoey’s skin was healed, as a maintenance moisturizer between wraps. Her skin has been wonderful using this stuff.

Since Zoey has had pretty severe and reactive skin since birth, and fits the descent profile, they decided to test the 5 most common mutations ( there are more than 40). Tests showed that she has two heterozygous filaggrin mutations. Dr. Lanser kindly took the time to explain, and re-explain what that was.
Here is my expert diagram :

20130822-214048.jpg
If there were two sad face red guys on a pair we’d have even worse and definitive trouble, with little to no skin glue. The mismatched mutants may or may not be expressing themselves.

Results don’t change much of what we are doing.
We’ve had great success using Vanicream lotion under wet wraps and Cetaphil Restoraderm for our round the clock maintenance since just after her food challenges late last week.
Whether the great results are from the whole new wet wrap regime or the addition of Cetaphil is hard to say. I’m just grateful something works, that it’s relatively cheap, over the counter and I can purchase it within a mile of my home.

Here is a link (thanks Eczema Parents!) to better diagrams and info on the FLG mutation and how it may be related to the “allergic march”:
http://allergynotes.blogspot.com/2013/03/filaggrin-mutations-and-atopic.html?m=1

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