Date: 25/09/2013 21:19:58
From: purple
ID: 401680
Subject: harlequin ichthyosis

There’s a pic going around facebook of a baby with this. so I look it up.
says people with HI shed skin more than 10 times the rate of average people.
is this why they’re so red?
seems theres a definite line between hard skin and fresh (red) skin for these folks

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Date: 25/09/2013 21:30:35
From: OCDC
ID: 401691
Subject: re: harlequin ichthyosis

purple said:


There’s a pic going around facebook of a baby with this. so I look it up.
says people with HI shed skin more than 10 times the rate of average people.
is this why they’re so red?
seems theres a definite line between hard skin and fresh (red) skin for these folks


UpToDate

Harlequin ichthyosis (MIM #242500) is the most severe form of congenital ichthyosis and is often lethal in the perinatal period. Tonofibrils may be increased in the basal layer, and abnormal lamellar granules also are seen . Inheritance is autosomal recessive. Mutations in the ABCA12 gene have been reported . ABCA12 encodes an adenosine triphosphate-binding cassette (ABC) transporter protein that functions as a lipid transporter within keratinocytes. Mutations in ABCA12 lead to impaired lipid secretion from lamellar granules within the keratinocyte and a defective cutaneous lipid barrier .

Basically what this means is there is a problem with transporting fat within skin cells. Normal skin is fairly water impermeable (if you sit in the bath for yonks your skin goes funny, but otherwise not much goes in or out of it). In HI, that doesn’t happen; there are lots of gaps that let water and other molecules go through the skin when they shouldn’t. so there is lots of inflammation and redness. Adding lipids back in form of ointments can help skin integrity, which is why it is no longer universally fatal in neonates.

Now that I re-read your description, it sounds a bit like psoriasis though. Usually HI affects all skin, not patches. Do you have a link to the pic?

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Date: 25/09/2013 21:42:19
From: purple
ID: 401698
Subject: re: harlequin ichthyosis

having intrawebs problems :(
http://www.shhirt.org.uk/sams-story/

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Date: 25/09/2013 21:43:55
From: purple
ID: 401701
Subject: re: harlequin ichthyosis

can it be discovered in-utero?

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Date: 25/09/2013 21:45:17
From: OCDC
ID: 401704
Subject: re: harlequin ichthyosis

Okay, so it is HI. Usually there isn’t that demarcation. I’d guess it’s from dressings or something happening prior to that photo.

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Date: 25/09/2013 21:47:09
From: OCDC
ID: 401705
Subject: re: harlequin ichthyosis

purple said:


can it be discovered in-utero?

I don’t think ultrasound can detect it, because the amniotic fluid stops it from drying out. But if there’s a family history it can be tested for. Either amniocentesis during pregnancy, or if they’ve already lost a baby, using IVF and pre-implantation genetic diagnosis.

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Date: 25/09/2013 21:51:23
From: purple
ID: 401714
Subject: re: harlequin ichthyosis

thanks :)

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Date: 25/09/2013 21:55:19
From: OCDC
ID: 401716
Subject: re: harlequin ichthyosis

No worries :-) A few years ago on Amazing Medical Stories or similar there was an episode about people with it who’d survived, and I did some reading up / medical rubber-necking.

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Date: 25/09/2013 21:57:59
From: Witty Rejoinder
ID: 401719
Subject: re: harlequin ichthyosis

OCDC said:


No worries :-) A few years ago on Amazing Medical Stories or similar there was an episode about people with it who’d survived, and I did some reading up / medical rubber-necking.

It was featured on ‘Embarrassing Bodies’ too.

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Date: 25/09/2013 21:58:58
From: purple
ID: 401721
Subject: re: harlequin ichthyosis

There’s a girl in the US (with it) who had a baby and a lady in UK who’s 29

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Date: 25/09/2013 22:05:12
From: OCDC
ID: 401730
Subject: re: harlequin ichthyosis

And the baby is normal which is great (father not a carrier).

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