Helping children with severe skin disease | Action Medical Research

Touching Lives - October 2010

Helping children with severe skin disease

Skin is the largest human organ with massive responsibilities: regulating temperature and fluid loss and protecting against infection. It is only when something goes wrong with it that you understand its significance. Harlequin ichthyosis is an extremely severe skin disorder that affects babies, who are born with a thick, hard shell covering their bodies. Diamond-shaped plates are separated by deep cracks, which invite infection, and the thick, tight skin on the chest can restrict breathing.

The condition is rare but can cause life-threatening complications – many babies die within weeks – and it remains an incessant battle for those who survive. Once the plates disappear, the child is left with scaly, sore skin, which requires daily care. More improvements in treatment are needed, so two inherited skin disease specialists are furthering understanding of the cause.

Professor David Kelsell and Professor Edel O’Toole discovered the ‘harlequin’ gene, ABCA12, five years ago and are looking to develop better genetic tests. They are also investigating how harlequin ichthyosis alters the biological processes that take place within the skin, which could lead to better treatment.

They are supported by more clinicians managing people with the condition than any other research group in the world. Professor Kelsell and Professor O’Toole believe the project could also provide lessons in more common skin diseases, such as eczema and psoriasis.

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