X-linked ichthyosis - an inherited skin disease | Children's Charity

X-linked ichthyosis - an inherited skin disease

Project LeaderProfessor E A O'Toole MB BCh PhD FRCP DCH
Project team
  • Professor D P Kelsell BSc PhD
LocationCentre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary Hospital, Queen Mary University of London
Duration2 years
Grant awarded21 November 2016
Provisional start date1 April 2017
Provisional end date31 March 2019
Grant amount£116,230.00
Grant codeGN2547

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Background
X-linked ichthyosis is an inherited skin disease, estimated to affect between one in 2,000 and one in 6,000 boys. Babies with X-linked ichthyosis may have no skin problems at birth, but then develop thick, dry, brown, scaly patches during the first few days, weeks or months of life. Most patients show symptoms by the age of one year and will then have the condition for the rest of their lives. The arms, legs and torso are usually the worst affected areas. Affected boys may also have undescended testicles and behavioural problems. X-linked ichthyosis can make life difficult for affected boys and their families. The appearance of skin patches means that children may be teased or bullied at school. Treatment is generally limited to moisturisers and exfoliation, which can be messy and time consuming and provide only limited improvement. Additional medicines taken by mouth are not very effective and can have serious side effects.

The research project
These researchers want to find a better treatment for X-linked ichthyosis. It is already known that the condition is caused by a faulty gene on the X chromosome. This gene controls the production of a protein (enzyme) called steroid sulphatase (STS) which is involved in the metabolism of lipids (fats) within the cell. Boys with the faulty gene cannot produce enough STS and this is particularly important in the skin, where STS controls the shedding of dead skin cells. Without STS, the dead skin cells build up, forming characteristic brown, scaly patches. The team plan to carry out a detailed study of the genes active in skin biopsies from boys with X-linked ichthyosis. They will also examine lipid metabolism within these cells to find out exactly which components are missing. The researchers will then use a three-dimensional model of skin which simulates X-linked ichthyosis and will try to replace missing lipid components or add in drugs that might stimulate or inhibit the activity of relevant genes. They hope to identify specific small molecules that could be applied as a cream or ointment to a patient's skin to relieve the symptoms of X-linked ichthyosis. In the future, it may be possible to develop a medicine that could be taken by mouth for boys with other complications of the condition, for example, behavioural problems.
 

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