Cause, symptoms and cure: What is the Harlequin disorder?
India’s first recorded case of a baby born with Harlequin Ichthyosis - a rare genetic disorder - died on Monday morning after it developed breathing problems at a private hospital in Nagpur.
The baby was born to a 23-year-old woman from Amravati in Vidarbha region of Maharashtra on Saturday.
Here are answers to some questions regarding the most severe and devastating skin disorder.
What is it?
Harlequin Ichthyosis is a rare genetic skin disorder. Infants who are affected by this condition are born with thick, yellow and very hard skin. The skin has large, diamond shaped plates separated by deep fissures. The disorder affects shapes of all the organs.
The disease is very rare and the exact incidence is unknown. However, according to a 2014 paper written by Ahmed H and O’Toole EA, two researchers from Department of Dermatology, Barts Health National Health Service Trust, one in 3,00,000 babies get this disease.
What causes it?
Mutations in the ABCA12 gene cause the disease. The ABCA12 protein plays a major role in transporting fats in cells that make up the outermost layer of skin. Severe mutations in the gene lead to absence or partial production of the ABCA12 protein. This results in lack of lipid transport and as a result the skin development is affected by varying degrees according to the severity of the mutation.
How is it inherited?
For a baby to inherit this condition, both father and mother, should be carriers of the mutated ABCA12 gene. This type of inheritance is called autosomal recessive pattern.
Can it be cured?
There is no cure for the disorder but it can be managed with treatment. In the past the disease was considered fatal. But with advanced technology improved survival rate has been achieved with intense neonatal care.
First known case
A researcher called J I Waring in a paper titled “early mention of a harlequin fetus in America”, quotes a diary entry from Oliver Hart, a pastor of a Baptist church in Charleston. This is allegedly the first recorded case of the disorder
“On Thursday, April ye 5th, 1750, I went to see a most deplorable object of a child, born the night before, of one Mary Evans, in Chas: town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard, and seemed to be cracked in many places, somewhat resembling the Scales of a Fish. The Mouth was large and round, and wide open. It had no external nose, but two Holes where the Nose would have been. The Eyes appeared to be lumps of coagulated blood, turned out, about the Bigness of a Plumb, ghastly to behold. It had no external ears, but holes where the ears should be.”
People who survived the disorder
The Daily Mail profiled 24-year-old Stephanie Turner who was affected by Harlequin ichthyosis and is now living in the US with her two-year-old son - first person with the condition to have a baby.
Here is another profile about a 21-year-old woman Hunter Steinitz who inherited the disease.
Another profile of Nusrit Shaheen, 32-year-old woman, living in the UK.
Source: National Library of Medicine, medscape.com