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#13633 - 03/13/07 07:46 AM frusrated! what type??
haley's mom Offline
Member

Registered: 03/13/07
Posts: 6
Loc: saskatchewan, canada
hi there. I am new here, and my baby was born 9 weeks ago. she was born with the collidion membrane and she is still peeling. the derms here dont seem to know anything right now, but this is her symptoms. she still has tough skin on her arms and legs, her scales are mostly white,some are more yellow in the t zone on her face and her scalp. her skin underneath seems to hsve a normal pink colouring, but really dry feeling and it looks wrinkly. we have also had her genetic testing done and they came back stating-that she has a normal female karyotype with no chromosomal structural or numerical aberration. it also says that this study shows no evidence of a complete deletion of the sts gene,which in 90% of these patients is identified by fish. the remaining 10% have other rearrangements that cannot be identified by fish. this does not rule out autosomal ichthyosis due to mutations at 2q34. if anyone has any insight to this I would love to hear from you. The doctors, pediatricians, and derms arent able to tell us anything.??? I know that you all have so much more knowledge. Thanks

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#13634 - 03/13/07 01:03 PM Re: frusrated! what type??
aylasmom Offline
Member

Registered: 05/29/06
Posts: 215
Loc: Waterford ,MI
Hi- Congrats on a new little one. The F.I.R.S.T. website is a great place to get reliable info if you haven't been there yet (www.scalyskin.org). My daughter was also born with collodion, and we were told that it is usually lamellar or Non bullous CIE- We still don't know for sure what type she has, but her treatment wouldn't change either way if we knew- Sorry this probably wasn't that much help... Welcome to the board.

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#13635 - 03/13/07 02:06 PM Re: frusrated! what type??
jds Offline
Member

Registered: 12/23/05
Posts: 432
Loc: Austin, Texas
Welcome. Someone here or at FIRST will definately be able to lead you in the right direction. My son was also a collidian baby. It took him much longer than most to peel. I think it was at least 2 months instead of the usual 2 weeks. He was very red in color at birth and looked as if he would burst if you touched him. The skin looked very small for the body underneath. Most baby pictures I have seen showed the membrane peeling in fairly large sections. Again, not the case for us. Hie peeled slowly and in small little sections at a time. I never even noticed his back and tummy peel. One day the just started changing. Thye began to look like brownish 1X2 bricks. They were still flat just the formation was changing. Slowly most of his body excluding the face began to form like this. The lower arm (elbow to hand) and lower leg (knee to foot) have always been covered in a very hard plastic like skin that rarely will allow me to remove it. It doesn't have much give to it. Now that he is 15 months, the scaling is smaller (except for the lower arms/legs that remain the same). My son has lamellar. He never had anything resembling the white flaking you describe. I am definately not the expert hopefully Hearsay will read this; she is very knowledgable. But what you describes sounds more like CIE. I only posted or skin charaterics so that you would be able to picture what a lamellar baby might look like and compare it to your own experiences and see if you think it is a match. Sorry I am so talkitive. Runs in the family. Again, welcome and congrats on the new little one!!!

------------------
Tammy (caregiver)
1 year old son- lamellar ichthyosis
_________________________
Tammy (caregiver)
******************
toddler son
lamellar ichthyosis

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#13636 - 03/13/07 03:04 PM Re: frusrated! what type??
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Hello! congratulations on your new baby!

I'm one of the local science dorks on this board, so I'll just jump right into that.

It sounds like your doctors just tested the most common type of ichthyosis that isn't vulgaris, without paying attention to the presentation.

The karyotype testing was probably a wasted test. All it really told you is that no chromosomes are missing or are missing a chunk big enough that it would lose an entire band (chromosomes appear striped). If she was missing an entire band, then you'd probably have a lot more problems than just the skin.

The STS mutation is present in people with X-linked ichthyosis. (XLI). As an X-linked disorder, probably 98% of those affected are male. The only way for a female to get it is to have an affected father AND an affected maternal grandfather. In addition, XLI doesn't typically result in a collodian membrane at birth. FISH is just a method of testing genes. Basically, your results say that the test is able to identify 90% of people with a mutation that causes XLI.

HOWEVER, as Aylasmom mentioned, collodion membranes usually show up in babies with non-bullous congenital ichthyosiform erythroderma (nbCIE or CIE) or lamellar ichthyosis (LI). With LI, people spend their lives battling thick, heavy scales that fall off like dandruff. They often have ectropion (the lower eyelids pull down and show the red part) because the dry skin pulls them down. Some have problems with hair growth and dehydration and heat sensitivity.

Others have very fine scale that makes the skin appear thin and creased, sort of like what you'd see in an elderly person's hands (CIE). The gene for this type is currently unknown. There are people on this board with both types that can tell you more about it. My family has yet another type that acts completely different.

There's a test for LI - about 1/2 to 3/4 of people test positive for a TGM1 mutation. There's no test for CIE. Both types are recessive, which means that both you and your partner have a copy of the gene, but it is unexpressed. Your chances of passing it on again are 1 in 4 with every additional child. Half will be carriers, but that won't be a problem unless they happen to marry another carrier.

There's also a small chance that your daughter has one of the really rare types, but most likely not. (trichothiodystropy, Gaucher's disease or neutral lipid storage disease).

As most of us with ichthyosis have discovered, the dermatologists are generally useless except for a handful of knowledgeable ones, and even they can't really do much beyond getting a diagnosis for you. Most of the medications that they can prescribe are steroids like Accutane and Soriatane, which have a lot of side effects and are not recommended for children, plus some Psoriasis medications and higher concentrations of lactic, salicylic or other acid lotions or concoctions.

I third the suggestion to get in contact with FIRST. They can direct you to a knowledgeable doctor "in your area," which may be across the border or 100 miles away. You also may want to read through the posts on the LI/CIE board below this one. I know you have copious amounts of free time!

Jennifer


------------------
Reticular Ichthyosiform Erythroderma with white spots.
Husband, Nathan - 4, Elliot - 1, all affected.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#13637 - 03/13/07 05:45 PM Re: frusrated! what type??
haley's mom Offline
Member

Registered: 03/13/07
Posts: 6
Loc: saskatchewan, canada
thanks so much for all of the info already. I have been given more answers this way than any other. so if I have a 1 in 4 chance of any other children having this, what are the chances that she will have children like this?
alot of the stuff that jds described is what Haley is also experiencing. her arms and legs are still covered in the so called sausage skin and her torso and back is much like the little brick type. her chest and tummy is almost done shedding the bticks and it is just really dry and wrinkly anderneath. her arms and legs are begining to peel, much slower but it is coming off also. so it seems definatly like one of the 2 things that you are telling me. anyways thanks so much for all the info.!!!!

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#13638 - 03/13/07 07:56 PM Re: frusrated! what type??
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Because it is a recessive problem, your daughter will make all of her children carriers. The disorder itself could possibly not show up for 10 generations. It's all in who they marry.

The TGM1 mutation is in 1 of every 250 people. So here's how it works:

You (1/250) + spouse (1/250) had a kid. The chance that the kid was affected was 1/4.
250x250x4= 250,000. So the chance that 2 random people can have a child with LI is 1/250,000.

Now you know that you and spouse are both carriers. You have 1/2 LI and 1/2 normal gene. So does your spouse. 2x2=4. So 1/4 kids affected, 1/4 not affected, and the other two will get 1 LI and 1 normal copy of the gene, making them carriers. Unfortunately, have won the lottery once doesn't guarantee that the other children won't be affected. Just like a coin toss - getting heads on the first flip doesn't have any effect on getting heads or tails on the second try.

Your child has a 1/1 (100%) chance of passing on her copy. The person she marries has a 1/250 chance of having the gene. There's a 1/2 chance of passing on the affected gene by him. So...1x250x2=500. The chances that she passes it on to the grandchildren is 1 in 500. And even then, only 1/2 will be affected. The rest will be carriers.

I can't help you on the other question. Hopefully Tammy will post again.

Jennifer

------------------
Reticular Ichthyosiform Erythroderma with white spots.
Husband, Nathan - 4, Elliot - 1, all affected.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#13639 - 03/14/07 05:41 AM Re: frusrated! what type??
haley's mom Offline
Member

Registered: 03/13/07
Posts: 6
Loc: saskatchewan, canada
thanks again for the info. how do you know so much, just because you have dealt with it yourself? So you are saying that we are both carriers? does that mean that somewhere in our past relatives they would have had something like this. we have looked back as far as our great grandpaernts and there has been nothing?? that what was so hard for us t understand. my husband comes from a family with his father being one of 15 kids and his mom one of 6 and there are over 40 cousins, and they are now having children and nothing, we were the first and i should say only. my family is smaller but again nothing. so would our siblings be carriers also? what are there chances? i am sorry if I am being a total dummy about all of this I still just find it hard to believe. Sometimes I think that because we somehow can figure out any family line to this that it was one of those freak things and that it will just go away. I am also scared to have any more children because if this turns out to not be very bad or severe, what if it is worse next time. I just was never mentally prepared for any of this and it can still be hard some days.thanks again thou for all of your help.!!
one question though for anyone who can answer me... we use vaseline twice a day on Haley for her skin right now and it is ruining all of her clothes.Is there any secrets as to how to wash this and get the vaseline out or are we at a lost cause with this?? just thought I would ask. thanks again.

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#13640 - 03/14/07 03:59 PM Re: frusrated! what type??
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I know what I know for a combination of reasons. I teach physiology for a living, which means that I have 7 years of college-level biology and chemistry under my belt. That gives me a pretty good understanding of the genetics. Also, my husband is affected. He was originally diagnosed with LI, so back when I was in college, I did a lot of research on it. Then after we married, we had some genetic counseling, which is how I got the 1/250 number. We've since had 2 affected kids and been rediagnosed twice, since whatever we have is obviously dominant (I'm not a carrier.)

As for the family tree, like I said, it may have not shown up for 10 generations. Once upon a time, people with severe ichthyosis either died young from infections or were institutionalized or were seen in carnivals at the freak shows - "See the Amazing FISH MAN!!!!" - type stuff. Thankfully, those days are mostly passed.

There's a really small chance that only one of you is a carrier and the other just had a sudden mutation of the same gene in that particular sperm or egg, but those odds are worse than being struck by lightning. It is much more likely that you are both carriers. Since the odds of a carrier marrying someone random and having an affected child are 1/500, it really isn't a surprise that your 40 cousins and 21 aunts and uncles and 8 grandparents and 4 great granparents (40+21+8+4=73), it's really not a surprise that none of them had an affected child. You probably would have to go back another 2 or 3 generations, or look into the descendants of your great-grandparents' siblings to possibly find another affected person. That's just how rare it is.

If you and your husband are carriers, then half of your siblings probably are, too. You got it from one of your parents, one of your grandparents, on back into the distant past. Like I said, if you happen to find an ancestral relative that was affected, the odds are that the child died as an infant or as a young child. Even if he/she survived, the attitude toward "freaks" back then was such that he/she probably never married and never passed it on. However, the siblings that were carriers would have gone on and had normal lives, passing the gene on down undetected until your daughter showed up.

Now that you know you are married to another carrier, your odds of it happening again are 25%. 2/3 of your unaffected kids will probably be carriers, but like that distant ancestor, it probably won't show up again for a very long time.

If you get Haley tested for TGM1 and it is positive, you can prevent having another affected child by going through IVF/PGD. If your gene is unknown or you don't feel IVF/PGD is for you, then you just have to take your chances, stop reproducing, or adopt.

You might want to try Aquaphor over Vaseline. As for the washer and the clothes, I know there were some posts about that very topic in the recent past. Here are the links:
http://www.ichthyosis.com/ubb/Forum2/HTML/000240.html http://www.ichthyosis.com/ubb/Forum2/HTML/000387.html

Jennifer
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#13641 - 03/14/07 05:06 PM Re: frusrated! what type??
jds Offline
Member

Registered: 12/23/05
Posts: 432
Loc: Austin, Texas
We started using the aquaphor only with jammies. I found though that unless the weather is just horrible vaseline works just as well. As for OTC lotions that I use during the day, there are several that do not mess up the clothes near as much: eucerine (walmart sales generic), cerave, curel ultra healing and vaseline creamy (walmart sales generic). My favorite for light moisturing is the curel and for heavy (just got up in the morning moisturizing) either the vaseline creamy or eucerine. I too was using mainly aquaphor and vaseline unitl my son was about 6 months old. That was what was suggested. Since then I have found his skin breaths better and looks better with just applying it at night over a daily lotion. For example, jojoba oil, then eucerine, the vaseline, then jammies. Make sure to change her diaper after about 30 minutes though. The lotion breaks down the elastic and causes leaks. I was also told to not bathe him often. A good 20 minute soak before the night time lotioning routine as been a miracle. I did not start this until he could sit up because it was a fight. Before that I would give him a bath every other day and mist him with water before lotioning in between days. Every kiddo is different though, so unfortunaltely trial and error is the best way to learn what will work best for your daughter.
As for the washer, the best thing I have found to work is spraying Greased Lightening on the inside of the washer under the lip where the build up gets. Scrub with a very hard dish scrubber. You will have to respray alot and pick all the little piece of junk out of the washer. I always wash a load of towels after just incase I missed something so that I do not ruin other clothes. I do this about once a month. I also always wash his clothes seperately on hot water, hot rinse, and rinse twice. This has worked well. The only clothes that really get ruined now that I quit using the vaseline and aquaphor so often is the jammies. The elastic wears down in the waist line. To help this, I put him in a robe until I need to rechange the diaper and then get him dressed. The make robes for infants at Target I know. Then, really it is only the robe that has the thick gunk on it. Also, I started wiping my hands on baby wipes. This hels the washer and clothing as well. Hope this was in some way helpful. Feel free to ask any other questions that you may have. That is what I did until I became comfortable with his care and found something that seemed to work.

------------------
Tammy (caregiver)
1 year old son- lamellar ichthyosis
_________________________
Tammy (caregiver)
******************
toddler son
lamellar ichthyosis

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#13642 - 03/14/07 05:09 PM Re: frusrated! what type??
jds Offline
Member

Registered: 12/23/05
Posts: 432
Loc: Austin, Texas
Haley's Mom if you send me an email. The address is in my profile. I will email you a couple pictures of my son's ski from when he was little. It might help you out.

------------------
Tammy (caregiver)
1 year old son- lamellar ichthyosis
_________________________
Tammy (caregiver)
******************
toddler son
lamellar ichthyosis

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#13643 - 03/14/07 05:26 PM Re: frusrated! what type??
Angel24755 Offline

Member

Registered: 05/13/05
Posts: 633
Loc: PA
Great post Tammy! I can't really add much to that except that we have found using extra soap in the washer really helps clean the clothes better and prevents a build up of Aquaphor and such in the washer. We use almost double what you're supposed to use in each load. Liquid detergent really is better than the powder. It allows you to use more without the fear of it staying in the clothes. We use ALL Free and Clear detergent. I don't think Dreft would cut the Aquaphor as well which is often used with babies.
We also only use Aquaphor at night (on top of Curel Ultra Healing lotion) on our kids (we have three little ones and our youngest two have Lamellar and were both Collodion babies...they are almost 3 and 5 years old). At least it's only the jammies that are covered in Aquaphor. During the day we use Curel Ultra Healing lotion along with Cetaphil cream. We too only used Aquaphor in the beginning with our son. Aquaphor was all that was recommended to us. In fact, we were told not to use lotions because they wouldn't work. This couldn't be more wrong in our case. Our son's skin was so much better when we incorporated lotion into his routine. Our daughter was our third born and we already knew how to care for a little one with Ichthyosis so she was a lot easier. It does get easier!!! Keep your Chin up! [img]http://www.ichthyosis.com/ubb/smile.gif[/img]
Lisa
(I too would be more than willing to share some pictures of my little ones with you if you would like to email me.)
_________________________

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#13644 - 03/14/07 10:40 PM Re: frusrated! what type??
wva Offline
Member

Registered: 08/08/05
Posts: 401
Loc: Detroit, MI, USA
Congratulations on your baby! These moms here can help you get a handle on things and give you so much understanding from a moms point of view. I have lamellar ich myself and I am a mother of four (none of them have ich) and a wife. I just wanted to say congratulations. Good luck to you and your family.

Karen (wva)

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