BPSU study - Congenital ichthyosis

This BPSU study investigates the incidence, early management and outcomes at 12 months, of babies born with harlequin ichthyosis (HI) or collodion membrane (CM). These are rare genetic conditions characterised by thick, tight scaly skin and significant neonatal mortality.

Lead investigator

Dr Fozia Roked
Dermatology Department
Birmingham Children's Hospital
Steelhouse Lane
Birmingham B4 6NH

Email: bwc.bchscinstudy@nhs.net

About the study

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. 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.

You can download the protocol card, including references, below

Case definition

Any suspected cases of severe congenital ichthyosis in live newborn or still-born babies. This includes babies with collodion membrane (a shiny film covering the skin) or harlequin ichthyosis (thick scales encasing the baby’s body).*

  Harlequin ichthyosis Collodion membrane

 

Consistency

 

Thick and rigid, like plastic Thin and moderately flexible, like a coat of lacquer or collodion

 

Pattern of cracking

 

Broad irregular cracks already present at birth, in a pattern likened to a harlequin suit, reflecting growth of the fetus within a rigid casing Mostly smooth at birth but cracks progressively with neonatal movements, particularly across major joints, eg in the groins

 

Restriction of limb movement

 

Significant restriction with fingers and toes firmly fixed in flexion Minimal, although digits may be temporarily fixed in flexion

 

Facial distortion

 

Facial features are significantly distorted by the tight membrane: severe ectropion with complete eversion of the upper lids, marked eclabium, flattened nose, occluded nares Facial features are mildly distorted by the tight membrane. There is usually some degree of ectropion and eclabium

 

Retroaural folds

 

Usually absent Present

Reporting instructions

Please report any cases seen within the last month which meet the case definition.

Duration

November 2018 to November 2020 (25 months of surveillance). Follow-up until November 2021 (1 year follow-up).

Funding

The study is funded by Great Ormond Street Hospital Children’s Charity (research grant: V4518).

Approval

The study has been approved by West Midlands - Black Country Research Ethics Committee (reference: 18/WM/0211) and HRA Confidentiality Advisory Group (reference: 18/CAG/0105).

Privacy notice

Birmingham Children's Hospital (BCH) is the sponsor and data controller for this research study. The Data Protection Officer at BCH can be contacted at BCH, Steelhouse Lane, Birmingham B4 6NH

The study team at BCH will use information from medical records for medical research study. Under the EU General Data Protection Regulation, the legal basis for processing this information is for the performance of a task carried out in the public interest. We will collect information about babies with with harlequin ichthyosis or collodion membrane from the doctors who are looking after them. Doctors will not provide identifying information, like names and addresses, but they will provide details like sex, ethnic group and date of birth. When the study finishes, identifying information will be deleted or de-identified. BCH will securely store this information for 20 years. 

If you want to find out more about how personal information is used in the study, please contact bwc.bchscinstudy@nhs.net.

Support group

Ichthyosis Support Group