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InvisibleDeadHearts


Registered: 07/17/09
Posts: 21,825
Loc: MICHIGAN
harlequin icthyosis
    #15028915 - 09/04/11 06:45 PM (9 years, 8 months ago)

Harlequin-type ichthyosis (also known as "Harlequin baby", Harlequin ichthyosis, a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. In sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to have a reddish color. In addition, the eyes, ears, penis, and the appendages may be abnormally contracted. The scaly keratin greatly limits the child's movement. Because of resultant cracked skin in locations where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.

The harlequin-type designation comes from both the baby's apparent facial expression and the diamond-shape of the scales (resembling the costume of Arlecchino), which are caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition, doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound to diagnose the condition.

It is associated with a mutation in the gene for the proteinABCA12. 

                                                                     



very interesting to read this old statement


"On Thursday, April the 5th, 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."


Nelly is a real diamond girl


Every morning Nusrit Shaheen, known as Nelly to her friends, enjoys a long soak in the bath. She will also usually have one before she goes to bed at night.

Nothing unusual. Many people chose to relax in this way. But for Nelly her daily routine is not done to help her unwind, it is a medical necessity.

The baths are just two steps in a rigorous regime of sloughing off skin and being covered in liquid paraffin that she has to endure in order to cope with the rare skin condition harlequin icthyosis.

It is so rare that at just 24, Nelly is the oldest survivor with the life-threatening disease in the UK. Most sufferers die when they are babies.

It means that her skin grows 10 times faster than normal and has to be rubbed off.


The names comes from the diamond-shaped scales that are characteristics of infants born with it. Like human armour plating, its stiffness can restrict respiration while the cracks in it mean that sufferers are also very susceptible to infections.

"I did get a bad one when I was younger and I still get them from time to time but not as many as I used to," Nelly explains. "I try and prevent them as much as possible by keeping myself fit."

Nelly is determined not to be metaphorically wrapped in cotton wool because of her illness and admits that sometimes she is as bad as any other 20 something about looking after her health.

"I don't have a special diet but I probably should eat more fruit and vegetables and fewer kebabs," she says, grinning cheekily. "Maybe take some vitamins and stuff,"

Nelly has four sibling who were also born with the same condition and who died as small children. She has two other brothers and two sisters who escaped the mutated gene that causes it.

"It was hard on my parents," she admits, her characteristic bubbliness suddenly dimming for a moment.

As she grew up she was determined to be like any other youngster and join in with sibling rough and tumble.

"I did have to be careful and if I did get a few knocks they had to be bandaged to make sure they didn't get infected."

She was self-conscious about her appearance though and used to hide beneath baggy clothes and a coat. Now though she favours pretty tops, sparkly T-shirts and electric blue nail varnish.

She has also got accustomed to the stares of strangers, particularly outside the non-judg-mental walls of Hereward College in Coventry where she is a student.

"People do make comments," she says. "It is harder out of college. I don't let them to get the better of me, unless they actually come up and ask me questions which I don't mind answering."

Three years ago a television production company made a documentary about two pairs of sisters, Lucy and Hannah Betts and Dana and Lara Bowen, who all have


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OfflineMad_Larkin
fnord
I'm a teapot

Registered: 11/29/07
Posts: 18,605
Loc: British West Indies Flag
Last seen: 2 months, 17 hours
Re: harlequin icthyosis [Re: DeadHearts]
    #15028919 - 09/04/11 06:46 PM (9 years, 8 months ago)

Fucks sake. :ifyoucanawe:


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dugasprogie:ramen calcifies ur third eye
DoD



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OfflinePigasus
D.T.K.L.A.M.F.

Registered: 05/04/08
Posts: 3,572
Loc: slow death
Last seen: 4 years, 8 months
Re: harlequin icthyosis [Re: DeadHearts]
    #15028929 - 09/04/11 06:48 PM (9 years, 8 months ago)

I'm partial to thalidomide babies myself.



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OfflineBeanhead
IS IRONIC PARADOX
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Registered: 10/11/08
Posts: 17,257
Loc: Geospatial inversion.
Last seen: 9 months, 12 days
Re: harlequin icthyosis [Re: Mad_Larkin]
    #15028935 - 09/04/11 06:48 PM (9 years, 8 months ago)

I also have a mutation in the gene for the protein ABCA12.

I looked all sorts of fucked up as a baby, they even had to bathe me in special medication that made me look purple :lol:

Now I have a bit of excemia on my arm or on my legs... changes position ever so often... Funny thing is it goes away when I get in the sunshine a lot.

BUT THE FUCKING ITCH CAN MAKE ME KILL SOMEONE


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OfflineGreendreams
Here and there
Male


Registered: 01/07/08
Posts: 3,863
Loc: Unknown
Last seen: 4 years, 6 months
Re: harlequin icthyosis [Re: Beanhead]
    #15029935 - 09/04/11 10:52 PM (9 years, 8 months ago)

It's a genetic mutation left over from when aliens started mating with humans centuries ago.

:ancientaliens:


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OfflinetwigheadS
mͯó
I'm a teapot


Registered: 08/27/08
Posts: 24,246
Loc: Glenn Gould's Fuck Windmi... Flag
Last seen: 1 day, 8 hours
Re: harlequin icthyosis [Re: Greendreams]
    #15029977 - 09/04/11 11:05 PM (9 years, 8 months ago)

.


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¿Check out some art m8?



Edited by Prisoner#1 (09/04/11 11:40 PM)


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OfflineBeanhead
IS IRONIC PARADOX
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Registered: 10/11/08
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Re: harlequin icthyosis [Re: twighead]
    #15030003 - 09/04/11 11:09 PM (9 years, 8 months ago)

it looks so damned painful


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InvisibleSamuel L Jackson
Bad Motherfucker
Male

Registered: 12/10/09
Posts: 8,390
Re: harlequin icthyosis [Re: twighead]
    #15030013 - 09/04/11 11:11 PM (9 years, 8 months ago)



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OfflineAnthony
M1 A1


Registered: 06/16/11
Posts: 3,725
Loc: earth
Last seen: 8 years, 4 months
Re: harlequin icthyosis [Re: Samuel L Jackson]
    #15030031 - 09/04/11 11:15 PM (9 years, 8 months ago)

twighead man at least spoiler that image...what the fuck dude


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Trippin? Click Me...... Me too!



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Invisibleshrooms n things
IRL im a troll
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Registered: 08/31/11
Posts: 712
Re: harlequin icthyosis [Re: Beanhead]
    #15030070 - 09/04/11 11:20 PM (9 years, 8 months ago)

dude.....that pic is so fucked up its not even funny.:feelsbadman:


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Invisibleshrooms n things
IRL im a troll
Male User Gallery


Registered: 08/31/11
Posts: 712
Re: harlequin icthyosis [Re: shrooms n things]
    #15030080 - 09/04/11 11:22 PM (9 years, 8 months ago)

im one tough motherfucker...but man that pic brought a tear to my eyes. imagine your first experience in this world is pain and agony :frown: :feelsbadman:


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InvisibleSamuel L Jackson
Bad Motherfucker
Male

Registered: 12/10/09
Posts: 8,390
Re: harlequin icthyosis [Re: shrooms n things]
    #15030088 - 09/04/11 11:23 PM (9 years, 8 months ago)

imagine being that person.

:feelsweirdman: is a person too, i think. i just cant remember what was wrong with that one. wasn't there a thread about that on here somewhere? i just looked it up but couldnt find anything.

edit: randomly popped back in my head. anencephaly.


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Edited by Samuel L Jackson (09/04/11 11:24 PM)


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Offlinerealfuzzhead
Male User Gallery


Registered: 03/04/10
Posts: 10,783
Loc: above the smog layer Flag
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Re: harlequin icthyosis [Re: Anthony]
    #15030091 - 09/04/11 11:24 PM (9 years, 8 months ago)

Quote:

Anthony said:
twighead man at least spoiler that image...what the fuck dude




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Invisibleshrooms n things
IRL im a troll
Male User Gallery


Registered: 08/31/11
Posts: 712
Re: harlequin icthyosis [Re: Samuel L Jackson]
    #15030095 - 09/04/11 11:25 PM (9 years, 8 months ago)

SamuelLJackson, is your sig a reference to pipes lol


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OfflineKingEmblem
Cannaisseur
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Registered: 03/27/10
Posts: 871
Loc: LA
Last seen: 3 years, 8 months
Re: harlequin icthyosis [Re: shrooms n things]
    #15030098 - 09/04/11 11:26 PM (9 years, 8 months ago)

Twighead, forum hero.


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triptych


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InvisibleSamuel L Jackson
Bad Motherfucker
Male

Registered: 12/10/09
Posts: 8,390
Re: harlequin icthyosis [Re: realfuzzhead]
    #15030108 - 09/04/11 11:27 PM (9 years, 8 months ago)

pipes? :confused:

nah its just some thing that salomon said one time, and i made it my signature because it was that awesome.


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OfflineRonaldFuckingPaul
Our Dear Leader
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Registered: 10/31/07
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Re: harlequin icthyosis [Re: KingEmblem]
    #15030113 - 09/04/11 11:28 PM (9 years, 8 months ago)

god damnit twighead..:mad2:


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InvisibleSamuel L Jackson
Bad Motherfucker
Male

Registered: 12/10/09
Posts: 8,390
Re: harlequin icthyosis [Re: RonaldFuckingPaul]
    #15030120 - 09/04/11 11:29 PM (9 years, 8 months ago)

you guys cant deny that even though it is disgusting it is fascinating.


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OfflinePigasus
D.T.K.L.A.M.F.

Registered: 05/04/08
Posts: 3,572
Loc: slow death
Last seen: 4 years, 8 months
Re: harlequin icthyosis [Re: Samuel L Jackson]
    #15030130 - 09/04/11 11:30 PM (9 years, 8 months ago)

.


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Edited by Prisoner#1 (09/04/11 11:44 PM)


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Offlinerealfuzzhead
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Registered: 03/04/10
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Re: harlequin icthyosis [Re: Pigasus]
    #15030133 - 09/04/11 11:31 PM (9 years, 8 months ago)

guys get some spoilers up in this bitch


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