This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through the National Research Funding Call.
Ichthyosis is a family of rare genetic skin disorders that cause abnormally dry, thick and scaly skin. Babies born with the most severe type of the condition, harlequin ichthyosis (HI), are covered in large, rigid areas of skin separated by deep cracks, which cause significant problems with breathing, feeding, temperature control, movement, hearing and eye closure.
The rarity of this condition means that there is no standardised treatment, no national expert services and practice varies greatly. Tragically, some babies die at birth, but others improve with treatment.
There is also a less serious type of the condition that causes a tight but less rigid “collodion” membrane (CM) covering the skin. Again, outcomes vary greatly. The condition can improve with time in some children, even resolving completely in some cases, whilst other times, it causes lifelong disabilities and disfigurement.
Professor Celia Moss and her team from Birmingham Children’s Hospital will collect data on all babies born with HI and CM in the UK, Ireland and Switzerland to understand these conditions better.
Current estimates suggest around 17 babies are born with these conditions in England and Wales each year, but Professor Moss suspects that the real figure is significantly higher. Some cases are stillborn, misdiagnosed or not reported.
In this project, the team aims to confirm how many babies are affected, and to survey the medical management of these babies during their vulnerable first weeks. Finally, her team will examine outcomes, including how long the children spend in hospital, and how many lose their lives before the age of one.
Ultimately, they hope a better understanding of these conditions will help improve care and treatment for babies with severe ichthyosis, reducing misconceptions about the disease, variation in practice, helping save more lives.
Improving the care of children with congenital ichthyosis, a life-long condition that leads to rough, scaly and dry skin
Researcher: Professor Celia Moss
Location: Birmingham Children’s Hospital