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Full Version: Can you recognize this mysterious disease? (MCQ)
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An infant was recently born with this condition in India. Can any of you recognise this Disease? Is this a disease or disorder? Is it Genetic? Or affected by some environmental agent? Can this infant be treated?
[Image: rare-disorder-infants.jpg]
I think its caused due to some environmental agent...
But sir... Its there any kind of treatment 4 this...
(02-09-2017, 05:33 PM)Sushmitha Wrote: [ -> ]But sir... Its there any kind of treatment 4 this...

Hey Sushmita,
This is Harlequin type Ichthyosis. It's rarest of rare genetic disorder...sadly there is no treatment for the disease. Management of this Disease is all that needs to be done...
Thanks sir 4 ur reply... But how to manage this disease????
Sir it cause due to mutation ...or something else ?
(01-24-2017, 01:35 AM)SunilNagpal Wrote: [ -> ]An infant was recently born with this condition in India. Can any of you recognise this Disease? Is this a disease or disorder? Is it Genetic? Or affected by some environmental agent? Can this infant be treated?
[Image: rare-disorder-infants.jpg]

Sir , how this is possible ... I want to know deeply about this genetic disorders ... It's totally different like alien ..
This is very strange..whether this kind of disease may lead to death?
Sir, i dont know clearly how its happen
It is due to the loss of function mutation on the ABCA-12 gene which is imp for the regulation of protein synth for the development of the skin
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