Appalling image snagged from The Internet Journal Of Pediatrics and Neonatology

Admit it - you're shocked by the above image (and you'll be further shocked by the other images you'll be seeing on this page). And with good reason. Few congenital birth defects are as disturbing to the eyes (and souls) of its witnesses than Harlequin Ichthyosis - commonly known as Harlequin Fetus. In this rare genetic disorder, which occurs in 1 in 300,000 births, babies are born with a massive horny shell of dense platelike scales and contraction abnormalities of the eyes, ears, mouth and appendages. Basically, wherever a fold would normally occur in a newborn baby, these poor souls have cracks.


Appalling Images courtesy EMedicine

The condition was first documented in South Carolina by Reverend Oliver Hart:

"On Thursday, April ye 5, 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 open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it."

Most babies born with this condition die within the first few hours or days after birth from the undernourishment caused by the rigidity of the lips, and underventilation and pneumonia because of respiratory distress. Abnormal water loss through the skin and poor temperature regulation lead to risk for infection beginning in the skin as well.

 
Appalling Images courtesy EMedicine


You've probably noticed the absolutely horrendous condition of the eyes of the above left infant. In Harlequin Fetuses, the free edges of the upper and lower eyelids are everted, leaving the eyes at risk for desiccation and trauma. The term "harlequin" derives from the newborn's facial expression and the triangular and diamond-shaped pattern of hyperkeratosis. The newborn’s mouth is pulled wide open, mimicking a clown’s smile. The underlying biochemical and genetic abnormality is not understood.

As you've seen, this is a truly horrific malady... and the babies are fortunate to not survive the pain and suffering that such a disorder would doubtlessly bring throughout their tragic lives.




UPDATE:

Amazingly enough, there are a few cases of individuals surviving into their teens and adulthood with this dreadful disease.

Such as this girl and this girl. More power to them to conquer this awful affliction!


The information above was mercilessly swiped from Emedicine - be sure to check out their Interactive Images!! - and The Internet Journal Of Pediatrics and Neonatology. The 1750 text was swiped from Wonderbaby.

Additional Links:
Foundation for Ichthyosis & Related Skin Types
Ichthyosis Information
Ichthyosis Support Group

Special thanks to Holly Kozik for the suggestion!



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