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Harlequin Ichthyosis

Harlequin ichthyosis is a very rare genetic skin disorder. It is the most severe type of ichthyosis.

Harlequin ichthyosis is caused by a mutation of the ABCA12 gene, and the baby receives one mutation from each parent, who are carriers but do not display any signs of the condition themselves.

Because of this mutation, babies with Harlequin lack a protein that helps the top layer of their skin (the epidermis) form correctly. To try to compensate for this missing protein, the body makes too much skin, and the body can't shed it quickly enough.

Babies affected with Harlequin are born with extremely thick plates of skin - almost like armor - with deep red fissures over their entire bodies. This thick skin pulls tightly, causing deformed facial features.  The eyes are pulled so tightly that the lids are flipped inside out and bright red from irritation. Often the nose and ears are barely able to be seen under the plates of skin. And the fingers and toes are contracted and shortened due to the pulling of the thick skin.

Immediate concerns after birth are infection due largely to the deep fissures, dehydration, and breathing, because the skin restricts movement in the chest.

Eventually, the original skin wil peel off, leaving reddened and flaky skin underneath. However, dehydration, temperature changes and infection will always be a concern for children with Harlequin ichthyosis because their epidermis doesn't regulate their own body temperature, hold in moisture or keep out bacteria.

Until recent years, babies born with Harlequin rarely survived past the first few days, but with recent advances in neonatal care, more infants with Harlequin are surviving now, according to the Foundation for Ichthyosis and Related Skin Types (FIRST). The oldest person with Harlequin is in her late 20s. 

15 comments:

  1. I'm so glad that your baby daughter is doing so well. I was born with X-linked Ichthyosis, and once I was looking up more about my own skin condition (much less severe than Brenna's), and I came across some images of other children with HI. I had no idea some children were so affected, and it terrified me.
    One thing that confuses me is that Brenna's father doesn't show signs of Ichthyosis. I assume it's on the X Chromosome, so how could he not have it? Perhaps that is a better question for a geneticist. Does anyone else in your family have ichthyosis?
    I'm glad to have found a story that explains a happy- "ending" is a bad word in this case- beginning. Your daughter is beautiful and I hope she grows into just as strong a woman as she is now.

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    1. Hi Jonathan,

      From my reading, the ABCA12 gene that causes Harlequin-type is on chromosome 2 rather than the X as in your case. If it's recessive then neither of Brenna's parents would necessarily show signs of it.

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    2. Sam is correct - Harlequin is recessive and neither parents have it, they are simply carriers and do not show any signs of it.

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  2. Yes ...its true that harlequin ichthyosis have high mortality rate but as you said with advanced neonatal care and using RETENOIDS mortality rate is significantly reduced. Recently one harlequin ichthyosis lady gave birth to a baby boy.
    It is important to provide the best nursing care for harlequin baby and as far as concern to Brenna she got an amazing parents.

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  3. you are amazing parents you will handle everything that comes your way. Brenna is beautiful and you are a n inspiration to others with similar problems. Keep it up Prayers from a mom in tn

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  4. just found out my grandchild, a boy, born today, has this condition, and the specialist has said its rare, a gene from both parents, I have never known my son to have this, and neither have any on his fathers side, The shock question is they were asked if both are related to one another which is not the case, why would this have been asked, ?

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    1. Hi there - the gene that causes Harlequin is so exceedingly rare, it is something that would never be tested for, and people who "carry" the gene never display symptoms of the disease themselves. The medical staff probably asked if they were related because again, the gene is so rare that it is a very rare chance that both parents would have it. My husband and I are not related obviously, but we are simply both carriers of the gene that causes HI. However, if your families were related, the gene would be present in your family lines...that's why there is a higher incidence of genetic conditions in smaller communities of people where the families are more closely related. Please feel free to contact me at blessedbybrenna@gmail.com with any more questions or just to talk!

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  5. Hi. I've been researching Harlequin because my foster son has this condition. He was brought to me and was told he had eczema. And so I am at a complete loss. On where to go, what to do. We are waiting for him to see dermatologist. And we've been waiting for 2 months for the call back. Now his skin is cracking in the folds of his legs around his diaper area. It looks so painful. Dr gave him nystatin??sp? And it's not helping. What do you use? Any info would be great.

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    1. I should mention the day he came into our home I knew it wasn't eczema. His hands and feet were so deep with cracks. After reading his charts it said he had Harlequin. I've done research and have been using aquafor which seems to be what is recommended most. I took him to a local doctor who plainly said "I will tell you most ped doctors have only ever read of this". We were referred to a bigger hospital in another city. Once we called for his appointment they said he has had 11 missed appointments over the last 2 years and that they would call back when something opens. I tried explaining that he was my foster child and that we would make that appointment no matter what. It's been 2 months. And feel like no one doctor is listening. It's like it isn't a big deal. I just want to know he is going to be safe and well.

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    2. Please feel free to email me at blessedbybrenna@gmail.com - I can share all kinds of things with you, and I'd love to help. Brenna used to get terrible cracks where you are describing, and we finally found a cream that would heal those cracks within a day or two. I hope you will email me and we can talk a lot more, I know how overwhelming the skin care can be!

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    3. Thank you. I will email. Sorry I've been away his sister was in the hospital with RSV. So back to getting him some answers. I appreciate any information. BTW my name is Trina. So if you get something it's from me.

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  6. your baby girl is gorgeous. god bless her always... keep the good work

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  7. your baby is gorgeous. god bless her always

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  8. She is beautiful. As is your son. Much love <3

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