Ichthyosis

Ichthyosis can be inherited (genetic) or acquired during life. The inherited forms are rare, generally present from infancy, and are usually lifelong conditions. Acquired ichthyosis can develop at any age due to a number of medical problems, such as kidney disease.

Unlike skin conditions such as eczema, which tends to be patchy and come and go with time, in ichthyosis the scaling is present throughout life and usually affects the whole body. Ichthyosis sufferers can face harassment, discrimination and uncomfortable symptoms that are often only relieved by time-consuming treatments – all of which can have a marked impact on mental health.

Researchers know that genetic ichthyosis can be caused by changes in DNA that affect skin cells, but little is known about how such DNA changes cause the skin to become scaly and inflamed. In some cases, skin cells are formed at a faster rate than they are needed, and they pile up on the skin surface, thickening the skin. In other forms, the cells are produced at the normal rate but instead of brushing off when they reach the surface, they cannot become detached from the cells beneath them and so they build up in layers (https://www.ichthyosis.org.uk/).

Working with Professor Muzlifah Haniffa from Newcastle University and the Wellcome Sanger Institute, and Professor Edel O’Toole from Queen Mary University of London, Dr Rajan will study how skin cells in patients with severe types of ichthyosis are different from normal skin cells, and why the protective barrier in the skin is weakened. He wants to study how the immune system reacts to this weakness in the skin barrier, looking at these differences across different layers of the skin.

The researchers hope that by doing this, they will be able to find changes in the skin of patients with ichthyosis that could potentially be improved by new treatments. To test potential treatments, they will grow skin cells in the lab, which will allow them to see if such drugs are able to ‘treat’ ichthyosis in the lab.

Dr Rajan said: “Adolescence is a time of self-consciousness, self-doubt and exaggerated concern with appearance and physical attractiveness – all of which can make ichthyosis an especially painful experience for teenagers. By studying skin samples taken from ichthyosis patients, we’re hoping to reveal more about the genetics underpinning the condition, which is needed in order to develop much-needed new treatments for adolescents with ichthyosis.”

Co-investigator, Professor Edel O’Toole from Queen Mary University of London, is an expert on ichthyosis and is Chair of the Medical Advisory Board of the Ichthyosis Support Group. Professor O’Toole said: “Young people with severe ichthyosis really suffer and I hope this research will provide new insights which will lead to advances in treatment.”