Hi, I'm a newbie here. 2 weeks ago I didn't even know that diagnosis of Ichthyosis existed.
My son has been suffering with this dry and flaky skin condition from 2nd week of his life. In his first 6 weeks of life he literally shedded all of his skin, including his face and his scalp. We had no idea why this was happening to him. We don't have any close relative who would suffer with the same or similar condition. I remember the midwife saying to me that she'd only seen a similar case once in her career and that baby was born prematurely. Our son was also born prematurely but only by 2 weeks. After the initial shedding of his skin, his skin stayed dried and flaky to date. His worst affected areas at the moment are his abdomen, his upper arms and lower legs/shins.
Other than that he has a silent heart murmur and keeps having blood in his stool. I have suggested a Coeliac test to our GP and that was done and came back negative.
He has never been investigated for his skin condition, our GP just tells us to get him Oilatum. We have been doing that but for the last 6 months I switched that for organic coconut oil and it seems to be conditioning his skin just as well. Beside all of these issues he also suffers with frequent infections (mainly ears) and he was born with a dilated kidney which has now apparently corrected itself. If he has Ichthyosis, then I would say it's a mild form, we have kind of got used to living with it. I am more concerned about the blood in his stools and wondering if it could be associated with his skin problems. We are currently waiting for his first dermatologist appointment. Can anyone tell us what we can expect from the appointment?
I should just add that he was born 18 months after my thyroid cancer and radioactive iodine treatment.
Thank you in advance for your help.
Sisa

Hi, Sisa! It sounds like you've had an ordeal with getting your son to a healthy place. Glad to meet you!

I don't know of any types of ichthyosis that cause dilated kidneys or bloody stool or heart murmurs directly. There are a few types that are very rare and syndromic with different problems, but generally the skin is a much more significant part of the problem.

Prematurity isn't specifically associated with ichthyosis, but there are an awful lot of reports of preterm affected kids, even my own.

As for the skin itself, I'm going to take a stab at it. If it is ichthyosis (and it might be something else), I'd do some research into X-linked. It passes down the mother's side of the family, invisible in the girls and pops up in roughly half the boys of mother's female relatives. If your mom only has brothers, none of their kids would be affected, but some of the brothers might be. If she has sisters, you might have a couple affected cousins. It's caused by a gene called steroid sulfatase and is a pretty easy one to do genetic testing - just a blood draw. It can cause labor to stall during pregnancy, and is often mistaken for Down Syndrome when they do the Triple Screen test in early pregnancy.

For scale management, have you tried out any of the acid lotions, like Lac Hydrin (12% ammonium lactate) or glycolic acid or urea lotions? They tend to work really well on both IV and x-linked varieties to loosen the scale. Follow it up with whatever regular cream you've been using. I know a lot of the UK folks use Oilatum in the bath and I've heard good things about it.

why nobody is updating anything?

The board just isn't as active as it was some time ago. We're looking into ways to rejuvenate it, but in the meantime, just expect that it may take quite some time to get a response to new posts.

that's really sad. and you've got to do something about that. it is an amazing board as I already said it. people might greatly benefit... But they simply don't know that it exists... I accidentally found it.