Date: 01/25/2017

Are you feeling a little perplexed by all the medical jargon surrounding your condition? You're not alone.  Ichthyosis itself, can be a complicated word to completely understand -- not to mention all the scientific research, origin of genetics, and range of treatments.  Over the years FIRST has discovered that there are frequently used words or phrases, surrounding the condition of ichthyosis, whose meanings are sometimes taken for granted by the medical community, or those "in the know."  And it's not always comfortable to ask for a "5th grade explanation." don't have to!  With FIRST flashcards we'll be exploring and explaining common terms regarding the rare skin condtion of ichthyosis, in the simplest way possible.  First up: filaggrin. 

What is Filaggrin?

John C. Browning, MC, MBA, FAAD, FAAP

Have you ever heard your dermatologist use the word filaggrin? Or perhaps you’ve seen the term mentioned in a medical article?  For many patients with ichthyosis, particularly ichthyosis vulgaris, this is a common term used by healthcare practitioners and researchers when discussing or writing about the causes of ichthyosis. So, what exactly is filaggrin?  We asked FIRST’s Medical & Scientific Advisory Board member, Dr. John Browning, to explain filaggrin as well as a recent article featured in PubMed entitled, “Filaggrin failure, from ichthyosis vulgaris to atopic eczema and beyond,” and here’s what Dr. Browning had to say:

“Filaggrin is an important protein located in the upper portion of the skin.  Its function was discovered by Dr. W.H. McLean and colleagues in 2006 at the University of Dundee in the UK.  Dr. McLean and his team found that profilaggrin (think of this as pre-filaggrin or a precursor protein to filaggrin) was the primary protein within the keratohyaline granules found in the granular layer of the skin. The granular layer is the last layer before the stratum corneum or the outer layer of your skin.  These granules provide the protein that is necessary to process filaggrin, which can be thought of as the essential “scaffolding” to create a healthy outer layer of skin.  Lack of filaggrin leads to dry, cracked skin.  Filaggrin is mutated in ichthyosis vulgaris, but not in other forms of ichthyosis. It also mutated in many cases of atopic dermatitis. Of course, since the skin is very complex, there are many other genetic causes for abnormalities in proteins and enzymes that lead to the other types of ichthyosis.” 

To find out more :

Filaggrin failure, from ichthyosis vulgaris to atopic eczema and beyond. Ref. Pub Med, 2016

Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. Ref. Pub Med, 2006

Is there an ichthyosis medical term that you would like explained in layman’s terms? Please let us know and we’ll add it to our FIRST Flashcards list, so you and all of our members can learn and gain a better understanding of skin terminology.

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