Babies with harlequin ichthyosis are born with a skin similar as a harlequin suit. A harlequin with diamonds on his costume like in 16-18 century Italian plays. In this case the diamonds are thick plates of hard scale on the body of the child. Underneath the skin has a deep red colour.
Harlequin Ichthyosis is an extremely rare and severe form of Ichthyosis. Even before birth the child has trouble moving in the womb because of the thickness of the skin. Cause of this thickened skin is a disruption in the keratin production (keratin causes the epidermis of the skin, nails and hair). Ears, eyes, arms and legs can be underdeveloped. Harlequin Ichthyosis is caused by a faulty mutation of the ABCA12 gene. It is possible to diagnose or recognise harlequin ichthyosis in early stages of pregnancy by removing some of the amniotic fluid to identity if there is a mutation in ABCA12.
A child with harlequin ichthyosis needs intensive care. Infections occur because of the deep cracks in the skin. The skin appears red, moist, open and unprotected. This can cause dehydration and overheating. The child is not able to regulate body temperature.
Besides skin problems, the child can have trouble breathing because the skin around the chest is tight. Further hands, feet, eyelids and mount can be abnormal. The skin structure can also impact the form of the skull.
In the past the survival chances of children with harlequin ichthyosis were minimal. Nowadays with the use of medicines that can improve the internal keratin system children have a fair chance to live.