X-Linked Ichthyosis

[mbnatanel]

Hi,
I have a 2 year old son with X-Linked Ichthyosis and he is very mild. I am considering having another child and was curious about how X-Linked works. If I have another son and he gets my X with the deletion, I know he will have X-Linked, BUT is the severity of the condition hereditary? Would another son be mild, too, or does it not work like that?
Thank you,
Mara

[confettiskin]

It's my understanding that severity may differ from one child to another with the same parents (and therefore the same mutation), but generally what one child has is in the ballpark of what another gets. So it might be a little more severe or a little milder, but not much.

No one knows the reasons for certain - Dr. Choate's study at Yale is working on this very subject - but my guess is that it has to do with where the mutation is or whether other genes can partially make up for the defect or not. Someday we'll have answers!

[admin]

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[Ichthyosis Support Group]

Posts on talkhealth online clinic should, and will, be answered only by the medical expert panel. Please would patients and patient organisations refrain from directly answering other patients questions and giving medical advice. The medical experts for this online clinic will be answering questions throughout the week 18th-24th September. This clinic is probably most relevant to patients in the UK as treatments and advice may vary from guidelines and practice used overseas.

Thank you
Ichthyosis Support Group

[Dr Mary Judge]

There are a few sibling pairs with X-linked recessive ichthyosis and they are generally affected in the same way as regards skin. If a child with XLRI also had a Filaggrin mutation that causes Ichthyosis Vulgaris (10% of the population) they might be more severely affected. Boys with XLRI may have delayed and complicated labour / delivery so warn the obstetric team.

[mbnatanel]

Thank you, Dr. Judge. I appreciate your taking the time to answer my question. I was lucky enough to have the XLI caught in-utero and had met with a couple of "experts" who warned about the delayed and complicated labor/delivery. I actually had to beinduced due to the placenta failing and it was, ineed, a difficult labor/delivery. Thank you for your help!