linerliquid.blogg.se - X linked ichthyosis

#X linked ichthyosis skin#

Males carrying XLI-associated deletions exhibit higher rates of mood symptoms (depression, anxiety and irritability) than non-carrier males.

This latest study, using the UK Biobank sample of half a million middle-aged participants recruited from the general population, has revealed a further four previously unknown issues associated with the XLI condition, both psychological and medical. Previous work into the condition, led by Dr Davies and colleagues, has shown that individuals with XLI are substantially more likely than non-affected individuals to present with developmental disorders, such as Attention Deficit Hyperactivity Disorder (ADHD) and autism. The condition, which causes dry and scaly skin, is caused by a genetic deletion or mutation carried by approximately seven million people worldwide.

#X linked ichthyosis skin#

Website accessed 1 December 2016.A pioneering study led by Dr William Davies of the School of Psychology has uncovered new insights into psychological issues and medical problems associated with the genetic skin condition - X-linked ichthyosis (XLI). 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.ġ. 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 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. “We would like to find a better treatment for X-linked ichthyosis,” says Professor O’Toole.īoys with the condition have changes – or mutations – in a particular gene and these changes are the underlying cause of the skin problems. Medicines are sometimes taken by mouth if symptoms are severe, but they are often not effective and can have serious side effects.”īetter treatments are urgently needed. “Treatment is generally limited to using moisturisers and exfoliation, which can be messy and time consuming. “The appearance of the skin in X-linked ichthyosis means that children may be teased or bullied at school,” says Professor O’Toole. Some boys with the condition have other problems too, such as undescended testicles or behaviour problems. The brown or grey colour of the scales can make the skin look unwashed even though it’s clean.

Typically, the skin on the arms, legs and torso is covered in thick dry scales, which have been likened to fish scales.

There’s no cure, so the boys’ skin problems tend to persist for the rest of their lives. How are children’s lives affected now?īaby boys with X-linked ichthyosis normally start to have problems with their skin before their first birthday. 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. There’s no cure for X-linked ichthyosis and treatment options are limited. 1 They have very dry, discoloured, scaly skin on their arms, legs and torso. This inherited condition almost exclusively affects boys: estimates suggest up to one in 2,000 boys has it. 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.