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#16281 - 12/21/07 06:08 PM Grouping LI & CIE together?
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
Did anyone else read this on the FIRST site?
(it can be found here: http://www.scalyskin.org/content.cfm?ContentID=260&ColumnID=4)

"Lamellar ichthyosis/CIE - New concepts, new mutations.

This topic deals with the importance of lipids in epidermal function. Lipids are essential for all cells and for proper barrier function of the epidermis.

Many members of F.I.R.S.T. have been diagnosed with lamellar ichthyosis or CIE. Lamellar comes from the Latin word for plate, describing the plate-like scales. CIE is short for congenital (you were born with it), ichthyosiform (ichthyosis-like), erythroderma (red skin), or the condition where one is born with red, scaling skin. The scale in lamellar tends to be large and dark, while the scale in CIE tends to be small and white.

At the extreme, people with this group of diseases have the clinical findings either of lamellar or CIE. However, it has long been known that the distinction between the two is often blurred, and people can have features of both. Both are autosomal recessive diseases (the individual has a mutation in the same gene on both chromosomes) and are rare, occurring in about 1 in every 200,000 to 300,000 people.

These disorders not only have varying appearances clinically, they result from mutations in a number of different genes. The first mutation identified in these disorders was in the gene for transglutaminase type 1 (TMG1). Although mutations in this gene are found in about one-third of people with lamellar ichthyosis, they can also be seen in individuals with CIE. Since the description of transglutaminase 1 mutations, investigators in France and elsewhere have identified mutations in seven other genes that result in clinical findings of lamellar ichthyosis, CIE, and overlaps between the two.

Because almost all of these disorders are autosomal recessive, they are now being grouped into the large group of Autosomal Recessive Congenital Ichthyosis (ARCI). So, hello ARCI, goodbye lamellar and CIE. The French investigators speculate that all these gene codes for proteins are involved in a new, common pathway of lipid metabolism. If this turns out to be true, it might explain the common clinical presentations of what were thought to be two different disease types. "

So now, it's no longer LI or CIE, but ARCI?
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If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#16282 - 12/22/07 12:53 AM Re: Grouping LI & CIE together?
cara&babyt Offline
Member

Registered: 07/12/06
Posts: 258
Loc: Fort Walton Beach, FL,USA
While it is classified under the same group now, most will still us the sub group CIE and Lamellar because they present so differenty. I mean we can say my son has ARCI, but when I say CIE it is esier to get the clearer picture because they can look very different on the spectrum.
_________________________
Cara Griffith and Teofilo Tundidor III (son 3 with nb-cie)
patricestudios@hotmail.com
Ft. Walton Beach, FL

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#16283 - 12/27/07 03:17 AM Re: Grouping LI & CIE together?
TMPOL_dup1 Offline
Member

Registered: 07/12/07
Posts: 138
Loc: Collingwood, Ontario, Canada
Agreed Cara,

Myles has Lamellar and presents like your "typical" person with LI. So using ARCI is confusing to most.

Cheers
Tara

------------------
Myles'Mom
_________________________
Myles' Mom
Myles born a collodion baby
Lamellar Ichthyosis

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#16284 - 01/20/08 06:43 PM Re: Grouping LI & CIE together?
Chandra Offline
Member

Registered: 11/20/00
Posts: 707
Loc: Grants Pass, OR
DNA testing determined I have lamellar, but I look like I have CIE. So ARCI really does appply for me but have the time I don't even remember to use it, let alone what it stands for!
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I am female, and was born in 1972 with Lamellar Ichthyosis.

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#16285 - 01/21/08 12:32 AM Re: Grouping LI & CIE together?
cara&babyt Offline
Member

Registered: 07/12/06
Posts: 258
Loc: Fort Walton Beach, FL,USA
It is so varied, the way everyone looks or the way there skin is worse in different spots. Chandra, your presentation shows just what a conundrum Ich can be. "Typical" can be misleading. I so wish the we were further along in understanding Ich. It can be so confusing. I can keep up most the time with the scientific descriptions of the way the skin acts on the cellular level with Ich, but after a couple pages my head starts spinning, lol.
_________________________
Cara Griffith and Teofilo Tundidor III (son 3 with nb-cie)
patricestudios@hotmail.com
Ft. Walton Beach, FL

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#16286 - 01/21/08 06:47 AM Re: Grouping LI & CIE together?
Promiseland_dup1 Offline
Member

Registered: 02/13/03
Posts: 536
The grouping of LI and CIE on the one hand and Vulgaris (severe) and X-linked on the other has a lot to do with the severity of the sweat disorder and the prevalence / rarity of their occurences, at least from a layman's perspective.
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