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X-linked ichthyosis: searching for better treatments for boys with this rare skin condition

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Children with a rare skin condition called X-linked ichthyosis may one day benefit from research by Professor Edel O’Toole of Queen Mary University of London. This inherited condition almost exclusively affects boys: estimates suggest up to one in 2,000 boys has it.1 They have very dry, discoloured, scaly skin on their arms, legs and torso. There’s no cure for X-linked ichthyosis and treatment options are limited. Professor O’Toole is looking for changes in the skin that cause boys’ symptoms, and searching for better treatments, with the ultimate goal of improving the lives of boys with this disfiguring condition.

How are children’s lives affected now?

Baby boys with X-linked ichthyosis normally start to have problems with their skin before their first birthday. There’s no cure, so the boys’ skin problems tend to persist for the rest of their lives.

Typically, the skin on the arms, legs and torso is covered in thick dry scales, which have been likened to fish scales. The brown or grey colour of the scales can make the skin look unwashed even though it’s clean.

Some boys with the condition have other problems too, such as undescended testicles or behaviour problems.

“The appearance of the skin in X-linked ichthyosis means that children may be teased or bullied at school,” says Professor O’Toole. “Treatment is generally limited to using moisturisers and exfoliation, which can be messy and time consuming. Medicines are sometimes taken by mouth if symptoms are severe, but they are often not effective and can have serious side effects.”

Better treatments are urgently needed.

How could this research help?

“We would like to find a better treatment for X-linked ichthyosis,” says Professor O’Toole.

Boys with the condition have changes – or mutations – in a particular gene and these changes are the underlying cause of the skin problems.

The team hopes to find out more about the disease processes involved, by looking for knock-on effects on the activity of other genes and investigating whether any particular lipids (fats) are missing from the skin. The team is also investigating whether it helps to replace missing lipids in the skin, either by adding the lipids themselves back into human skin samples or using medicines that stimulate the production of those lipids in the skin.

The goal is to identify substances that, when added to ointments or creams, might improve the condition of the skin, and give both the boys and their families a better quality of life.


1. Orphanet. Recessive X-linked ichthyosis. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 Website accessed 1 December 2016.




Project Leader Professor Edel A O'Toole MB BCh PhD FRCP DCH
Project Team Professor David P Kelsell BSc PhD
Project Location Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Project duration 2 years
Date awarded 21 November 2016
Project start date 1 June 2017
Project end date 31 May 2019
Grant amount £116,230
Grant code GN2547


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