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filaggrin deficiency – skin barrier gene defect

filaggrin deficiency – skin barrier gene defect

filaggrin deficiency – skin barrier gene defect

My hands ain’t pretty. I will be the first to admit that. Every since as a little kid, I possessed a pair of hands that looked like an old granny’s. My palms were always super creased and wrinkly-looking, and often the skin on my fingers would crack (along with the heels on my feet). My hands are still wrinkly looking, and if I don’t look after them (with our Balm Me Better! tee hee…shameless plug! 20% off this week guys, by the way!), they will easily crack and bleed. I always wondered why this was the case. I thought it might be something to do with my abnormal thyroid function. Or maybe I wasn’t eating enough fat – in the past few years, I’ve upped it considerably, which I think has helped a little.

Then last week, while I was doing clinic experience with Belinda Hills (a very talented naturopath up in Ridgley who specialises in allergies), I learnt that my wrinkly old creased and dry hands were actually a strong clinical sign of a gene mutation which causes filaggrin deficiency and ichthyosis vulgarise (inherited dry skin condition). Filaggrin is a protein found in the granular layer of the upper epidermis (outer layer of the skin). It is vital for skin cells to mature properly into the tough, flat corneocytes that form the outermost protective layer of our skin known as the cornified cell envelope (CCE). Filaggrin also helps to form part of the natural moisturising substance of the skin and may be important in our immune defence mechanism of the skin. When there is a lack or absence of filaggrin, the CCE does not form properly and the corneocytes dry out and the lipid layer is easily lost so that the skin becomes dry and cracked. The skin also has a reduced ability to act as a barrier from the outside world. It’s estimated that 10% of the population have the filaggrin gene defect, varying from mild to severe.

This is where things get interesting/scary for my poor little wrinkly old hands…There have been quite a few studies in the past 9 or so years to show that those with a filaggrin gene defect are highly susceptible to developing atopic conditions such as eczema, asthma and allergies, especially if both parents passed on the gene mutation. This is because the skin’s barrier is weakened, and potential allergens can easily enter through the thin layer of and cracks in the skin. Filaggrin deficiency leads to a “leaky” skin barrier that allows higher than normal water loss (explaining the dry, scaly skin), as well as allowing entry of allergens through the epidermis where they trigger inflammatory and allergic immune responses (atopic eczema and allergies). I have been extremely lucky that I haven’t yet developed an atopic condition (touch wood!), however, I’m now more aware that I have a very high chance of developing one – and it is extremely possible that I could develop an atopic condition at the drop of a hat, even as an adult.

Currently, there is no cure or drug or supplement that can help with filaggrin gene defect – although researchers such as Irwin McClean are working on it! The only way to prevent allergens from slipping through the skin barrier is by constantly coating your hands with an emollient, and covering cracks and cuts with bandaids, especially when handling potential allergenic foods and when outside. Also wearing gloves when putting your hands in water or dirt, avoiding soaps and ditching toxic cleaning and skincare products which can tear down your fragile skin barrier, can help protect your skin. I noticed a huge improvement in my cracked, dry hands when I made the simple switch from using store-bought nappy wipes, to my homemade nappy wipes, and also getting rid of harsh detergents. I also now use my handmade salves, such as our new Balm Me Better! Repair Salve, not just as a moisturiser, but literally as a medicine to help  nourish and build up a barrier on my dry, thin, filaggrin-deficient skin, and also as a preventative mechanism for developing atopic conditions.

If you feel you’re one of the 10% with a filaggrin gene mutation, then you should definitely be oiling up with a natural balm, such as our Balm Me Better! Repair Salve. It contains skin nourishing organic oils and butters, as well as a good therapeutic-dose of essential oils – lavender, elemi and geranium, all known for their skin-repairing benefits. I literally use our Balm Me Better! all day long, as a protective glove on my hands. And my oh my, do my little wrinkly creased old hands smell amazing! It came especially in handy after the gym today, doing a million and one rope climbs during our CrossFit class! My poor hands got a bit of a beating, haha.

p.s. You can get our Balm Me Better! Repair Salve (and any of our other products) for 20% off until Saturday 13 May. To order online, go to –  http://happybiome.com.au/shop/ and enter the code ‘mothersday’ at checkout to get 20% off your order! We deliver Australia-wide.

Studio open Thursdays 10-5 and Saturdays 10-1…However, we will be closed during 13-20 May, so make sure you pop in tomorrow or next Thursday to take advantage of our 20% OFF Sale! If you can’t make it in before the end of the sale, you’re welcome to make an online order and pick up at a time that suits you 🙂


For more info about the filaggrin gene mutation, and its links to atopic conditions, you can go here: