The mother, aged 28, delivered the child in a hospital in Bihar in India – and it’s believed to be only the second child in the country born with ‘harlequin ichthyosis’.
The mother said, ‘I have no idea how this happened.
‘My family and I are completely devastated. I am in shock as I was really looking forward to becoming a mother of a healthy child, be it a girl or a boy
Harlequin ichthyosis is extremely rare, and children with the genetic disorder are born with white ‘plates’ of thickened skin, with cracks in between them.
The disease can often be diagnosed in the womb by ultrasound scans. Children with harlequin icthyosis are prone to severe bacterial infections, and doctors in the hospital said the baby was not expected to survive for long.
Many patients with harlequin ichthyosis die shortly after birth, but some patients have survived for decades.
Harlequin ichthyosis is an extremely rare and severe inherited (genetic) ichthyosis.
There are approximately five such children born in the UK each year and some may be stillborn.
What is harlequin ichthyosis?
The name comes from the appearance of the skin at birth.
Affected babies are born prematurely and small for dates. The skin is covered in tight, thick, plates of hard scale and resembles armour plating or the harlequin suit of a jester. It splits at several areas causing deep cracks.
Children who survive are affected with severe inflamed ichthyosis and may be small and scarred in places. They will need ongoing intensive skin treatment with creams and courses of retinoid medicine and many require physiotherapy, counselling and extra tuition.
Harlequin ichthyosis comes out of the blue. The parents of an affected baby are carriers and will have a one in four risk of any future baby of theirs being similarly affected.
This is another genetic disease due to a single important skin gene being faulty or mutated. In this case, the mutation is in ABCA12, a gene thought to be involved in transport of lipids (fats) into the spaces between the cells in the skin’s uppermost layer. These lipids act as a protective barrier against bacteria and infection.
Harlequin ichthyosis cannot be prevented but it is possible to diagnose or recognise it early in pregnancy by removing some of the amniotic fluid surrounding the developing foetus to identify if there is a mutation in ABCA12.
This allows the family to decide if they wish to continue or terminate the pregnancy.
Source: the Ichthyosis Support Group.