How is the skin cycle different in people with Epidermolytic Ichthyosis?
“In ichthyosis, this process becomes DISORDERED, and too many skin cells are populated by the skin stem cells. This is known as HYPERKERATOSIS.”
A short lesson about HYPERKERATOSIS and the formation of SCALE in Epidermolytic Ichthyosis…
To make a diagnosis of EI, we often rely on genetic testing to identify the pathogenic (Disease-causing) variant in 1 of 4 different Keratin Genes (KRT1, 2, 9, or 10).
In addition to the genetic test, or when it’s not possible to get a genetic diagnosis, we can also make a diagnosis from a skin biopsy. From this we can look at the HISTOPATHOLOGY of the skin.
In the scientific diagram at the very top of the infographic above we can see how skin cells (Aka KERATINOCYTES) develop and change during the 28 day skin cycle in the EPIDERMIS.
New skin cells originate from the skin STEM CELLS located in the very base layer of the epidermis. The cells then mature and migrate towards the surface, where they start to change shape and lose their nucleus.
After around 28 days, they reach the surface and shed in a process called DESQUAMATION.
In all types of ichthyosis, this process of skin cell population and maturation becomes DISORDERED, and too many skin cells are populated by the skin stem cells. This is known as HYPERKERATOSIS.
This excessive production of skin stem cells leads to a build-up at the surface in the Stratum Corneum, and this is where we see the symptoms of icthyosis develop.
The two images at the bottom of the infographic show histopathology images of healthy skin and EI Skin.
You can see the good order and clear pattern of skin cells in the Healthy Skin. When you compare this to the EI Skin, you can clearly see the chaotic disorder of the cells in all layers of the Epidermis.
In order to find a cure with gene-editing for Epidermolytic Ichthyosis, we must target the DNA of skin stem cells, the cells responsible for populating the cells in the epidermis.
This is no easy task because the skin covers the entire body surface, and varies in thickness. We don’t want to use any major medical intervention like skin removal or grafting to achieve this. Instead we want to develop a topical “Gene Cream” that makes application easy and trauma-free.
If you’d like to learn more about how our researchers are trying to achieve this, visit “Our Research” to see the details of the EI Cure Project Research Portfolio.