Early Insights from Our England-Wide Ichthyosis Study – Dr Mark Eisner

Our England-Wide Ichthyosis Study Made Possible Through ISG Research Grant – Dr Mark Eisner 

I had the privilege to attend the recent ISG Family Conference with my supervisor Professor Neil Rajan, at the Imperial War Museum Duxford. We are two dermatologists and researchers from Newcastle University. It was a fantastic opportunity to connect with the community; meeting people living with ichthyosis, their families and international experts. It was incredibly valuable to meet the people behind the numbers in my study and to see first hand the vital importance of further research and the real difference better treatments would make to people’s lives.

During the event, I shared preliminary findings from a major epidemiological study I conducted with Professor Rajan. I want to emphasise that this project was funded by an ISG research grant and wouldn't have been possible without your help. With this vital support, alongside the British Association of Dermatologists and LifeArc, we were able to use national data from over 57 million people in England to build the most accurate picture of the ichthyoses to date. 

We looked at who it affects:  

• Approximately 51.5 people per million have a rare ichthyosis. Roughly 5 people in a full Wembley stadium
• It disproportionately affects people living in the most deprived areas of England
• People with an ichthyosis are more likely to describe themselves as having Asian ethnicity
• The areas with the highest prevalence are the West Midlands and North East England 

These results also suggest that people with an ichthyosis may be more likely to have certain other health problems. Our findings suggest that, compared to the general population, people with ichthyosis are more likely to have: 

• Asthma
• Atrial fibrillation (an irregular heartbeat)  
• Rheumatoid arthritis (painful, inflamed joints)  

More research needs to be done to confirm and understand this finding. For example, whilst it has been previously shown that patients with ichthyosis vulgaris are more likely to have asthma, our work suggests it may be more than just this group. We need to know which types of ichthyosis are at risk of these conditions and therefore need to be checked for them.

These results also show how powerful the partnership with the ISG is. They suggested we look into arthritis and we found an association. We were also asked by the ISG to look at who was having genetic testing. We found it was much more commonly done in children, but it should be considered in all patients with an ichthyosis (apart from ichthyosis vulgaris). 

Overall we left the 2025 Family Conference feeling inspired to tackle the problems faced by those in the community, and we hope this work will spur significantly more investment into ichthyosis research in the future.