India’s first tape-recorded case of a baby born with Harlequin Ichthyosis – an unusual congenital disease – died on Monday early morning after it established breathing issues 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 concerning the most severe and devastating skin disorder.
More and more proof, as the first Harlequin case, suggests that this dysautonomia is not always restricted to facial skin, being much more diffuse and extensive than the previous concept. Inning accordance with Cheshire and cols.( 2008), some cases of Harlequin syndrome might have irregular and diffuse distribution, integrating considerate and parasympathetic sores, with ipsilateral face and arm anhidrosis and absence of flushing
Harlequin Syndrome in Baby
What is it?
Harlequin Ichthyosis is an uncommon hereditary skin disorder. Babies who are impacted by this condition are born with thick, yellow and really difficult skin. The skin has large, diamond formed plates separated by deep fissures. The disorder affects shapes of all the organs.
The disease is extremely uncommon and the precise occurrence is unidentified. 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 significant role in transferring fats in cells that make up the outer layer of skin. Severe anomalies in the gene lead to lack or partial production of the ABCA12 protein. This leads to absence of lipid transportation and as a result the skin development is impacted by varying degrees according to the seriousness of the mutation.
How is it acquired?
For a baby to inherit this condition, both dad and mother, should be providers of the altered ABCA12 gene. This kind of inheritance is called autosomal recessive pattern.
Can it be cured?
There is no cure for the disorder but it can be handled with treatment. In the past the disease was thought about fatal. But with advanced technology improved survival rate has been attained with intense neonatal care.
First understood case
A researcher called J I Waring in a paper entitled “early reference of a harlequin fetus in America”, prices quote a diary entry from Oliver Hart, a pastor of a Baptist church in Charleston. This is presumably the first taped case of the condition
” On Thursday, April ye 5th, 1750, I went to see a most awful item of a child, born the night in the past, of one Mary Evans, in Chas: town. It was unexpected to all who witnessed it, and I scarcely know how to explain it. The skin was dry and difficult, and appeared to be split in many places, somewhat resembling the Scales of a Fish. The Mouth was big and round, and broad open. It had no external nose, however two Holes where the Nose would have been. The Eyes seemed swellings of coagulated blood, ended up, about the Bigness of a Plumb, dreadful to behold. It had no external ears, but holes where the ears ought to be.”
People who endured 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 boy – first individual with the condition to have a baby.