Congenital ichthyosis
This two year, prospective BPSU study investigates the incidence, early management and outcomes at 12 months, of babies born with harlequin ichthyosis (HI) or collodion membrane (CM) born between 1 November 2018 and 31 October 2020. These are rare genetic conditions characterised by thick, tight scaly skin and significant neonatal mortality.
Overview
Ichthyosis is a group of skin disorders with abnormally thick, scaly skin. It affects the whole body. Some types of ichthyosis are more severe than others. The most severe type is called harlequin ichthyosis (HI) where thick scales (plaques) encase the baby, causing problems with breathing, feeding, movement, eye closure and temperature control. Without special care babies with HI sometimes die at birthbut may survive with modern treatments. Babies with other severe types are born with a collodion membrane (a shiny film of skin) where the skin is tight but less rigid. Both types improve with time, but some degree of ichthyosis usually remains.
Ichthyosis is caused by an error in genes that control skin development. It can run in families, though some babies are born into families with no history of ichthyosis.
The number of babies born with harlequin ichthyoses or collodion membrane is extremely low, but we do not know exactly how many there are as we think some cases are not recognised. There is no proven correct treatment so practice varies. Some babies are kept in the neonatal intensive care unit for weeks whilst others receive care within a more normal setting. Some babies may suffer from unnecessary medical interventions while others may not receive the treatment they need.
Our study aims to establish the number of new cases and early death rates in the cohort of babies born in the UK and Ireland between 1 November 2018 and 31 October 2020. We will record key treatments, complications and age on discharge from hospital. We hope that this study will benefit children with ichthyosis by providing us with information on exactly how rare it is, how many babies do not survive and how different doctors deal with the condition. This will help shape future approaches to managing the condition.
Published paper
Moss C, Roked F, Davis PJ, Khan M, Tyler C, Ibbs S, et al. Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study. Br J Dermatol. 2023;188(1):139–140. doi:10.1093/bjd/ljac015
Investigators
Dr Fozia Roked
Dermatology Department
Birmingham Children’s Hospital
Steelhouse Lane
Birmingham B4 6NH
Email: bwc.bchscinstudy@nhs.net
Duration
November 2018 – November 2020