After India saw the birth and unfortunate death of its first Harlequin Ichthyosis baby, questions about the condition are abuzz. Find all you need to know abou the condition here.
A baby girl born with the reported case of Harlequin Ichthyosis syndrome died on Monday after developing breathing problems at a private hospital in Nagpur. The child was born on Saturday to a 23 year old woman from Amravati in the Vidarbha region of Maharashtra.
Ever since then, the internet has been abuzz with question about this disorder. Below is an explainer about the condition, based on a reports by Hindustan Times.
What is the Harlequin Ichthyosis disorder?
The Harlequin Ichthyosis disorder is a rare genetic condition, due to which infants are born with a thick, yellow and very hard skin. The skin has large, diamond-shaped plates separated by deep fissures, much like a fish's. Therefore, taking from the Greek word ikthys and the Latin word ichthyos, both, meaning fish.
How rare is this syndrome?
According to the US National Library of Medicine's Genetics Home Reference page, the disease is very rare and the exact incidence is unknown. Just one in 3,00,000 babies are inflicted by this disease children are affected by this condition, according to a 2014 paper written by Ahmed H and O’Toole EA, from Department of Dermatology, Barts Health National Health Service Trust.
If this is the effect, what are its causes?
This rare disease is caused due to mutations in the ABCA12 gene. The protein ABCA12 plays a major role in carrying fat in the cells that make up the outermost layer of the skin. Severe mutations in that gene lead to an absence or even partial production of the protein. Due to this, the lack of lipid transport affects the skin development by varying degrees according to the severity of the mutation.
Since it is a genetic disorder, what determines its inheritance?
The type of inheritance involved is called an autosomal recessive pattern. This means that the father as well as the mother can be carriers of the mutated ABCA12 gene for the disorder to be transferred to the infant.
Any breakthrough in its cure?
Unfortunately, no known cure has been discovered or invented. The condition which was earlier considered fatal can be managed with treatment. Due to advancement in technology, the survival rate has improved and has been achieved with intense neonatal care.
When was the first ever case of Harlequin Ichthyosis syndrome reported?
In a paper titled "Early Mention of a Harlequin Foetus in America", there are quotes from a diary entry by a certain Oliver Hart, a pastor of a Baptist church in Charleston which seems to be the first ever recorded case of the syndrome. This is what it says about a child: '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. The hands and feet appeared to be swollen, crumpt up and felt quite hard. The back part of the head was much open. It made a strange kind of a noise, very low, which I cannot describe. It lived about eight and forty hours, and was alive when I saw it.
Any known survivors?
The report cites three survivors:
- 32-year old Nusrat Shaheen who lives in the UK
- Stephanie Turner, a 24-year old, who currently lives in the US with her husband and two children -- a three-year-old son and and year old daughter
- 21-year-old Hunter Steinitz who also lives in the US
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