Surveillance of Congenital Ichthyosis in Neonates (SCIN)
Research type
Research Study
Full title
THE INCIDENCE, MANAGEMENT AND EARLY OUTCOME OF CONGENITAL ICHTHYOSIS
IRAS ID
243183
Contact name
Fozia Roked
Contact email
Sponsor organisation
Birmingham Women's and Children's NHS FT
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Ichthyosis is a group of incurable genetic conditions with abnormally thick, scaly skin. The most severe types, known as “autosomal recessive congenital ichthyosis” (ARCI) are present at birth. The most severe type of ARCI is harlequin ichthyosis (HI) where thick scales (plaques) encase the baby, causing problems with breathing, feeding, movement, eye closure and temperature control. Historically such babies died at birth or in the first month of life (neonatal period) but they can survive with modern treatments. Less extreme ARCI types present with a collodion membrane (CM), where the skin is tight but less rigid. Many of these improve with time, some even resolving completely within weeks.
Babies with HI and CM are very rare. Staff in maternity units recognise them but need help from skin specialists to care for them. There is no proven correct treatment so practice varies; some babies remain in the neonatal intensive care unit for weeks whilst others are nursed within a more normal setting. Babies with CM may suffer from unnecessary medical interventions. Some health professionals express the view that babies with HI should be left to die, unaware that the condition is now treatable.
We do not know the exact numbers of babies and children affected by ichthyosis. With active surveillance through the British Paediatric Surveillance Unit, we aim to improve care for these children and families, reducing misconceptions about the disease, variation in practice, and avoidable deaths.
This information will support an application to NHSEngland for a Highly Specialised Service and may help us understand why some babies die. Ichthyosis is considered a public health priority see http://www.genodermatoses-network.org/spip.php?rubrique256.
REC name
West Midlands - Black Country Research Ethics Committee
REC reference
18/WM/0211
Date of REC Opinion
4 Sep 2018
REC opinion
Further Information Favourable Opinion