Question about Harlequin ichthyosis

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hi i was watching a show on this disorder and was wondering if anyone has ever seen an infant born with this? i only caught a few minutes of the show but i was wondering if anyone knows how rare it is? it was the saddest thing i have ever seen.

The one I saw years ago was born to a family from the Phillipines and it had occured previously in their family as well.

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Specializes in Brain injury,vent,peds ,geriatrics,home.

Ive never personally seen a baby such as this,but have sseen them in my nursing books.It looks extremely painful!

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Is this condition something that can be diagnosed early in-utero? I have never seen a case nor heard of one at our facility. What a shock if you had no idea and delivered a baby that had this.

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Specializes in Geriatrics, Cardiac, ICU.

Yes, they need to make a test to diagnose that before the birth. I wish hadn't clicked on the link either.

Very disturbing.

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Yes, they need to make a test to diagnose that before the birth. I wish hadn't clicked on the link either.

Very disturbing.

Yep. This is a case for genetic manipulation if there ever was one.

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We had one on the unit a couple of years ago. Can't remember the gestation, 32 week-ish? Was in a 100% humidified isolette, Aquaphored like crazy. Poor little thing lived a few weeks and expired from overwhelming sepsis.

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Horrible !!

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Specializes in Telemetry, Nursery, Post-Partum.

That must be overwhelmingly painful. Makes me want to cry. I don't remember reading about it during school...

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Specializes in Hospice, LTC, CBRF, and Home Health.

Ryan's {the 18 y old man described in San Deigo} life story is shown on one of the "Medical Incrediable" shows they run on Discovery Health Channel. They re-run it once in a while.....

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Specializes in Maternal - Child Health.
Ryan's {the 18 y old man described in San Deigo} life story is shown on one of the "Medical Incrediable" shows they run on Discovery Health Channel. They re-run it once in a while.....

I've seen this episode, and found it to be one of the most moving and touching medical case histories I have ever watched. He and his mother are both great sources of inspiration and hope.

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