Monday, August 20, 2012

Harlequin-type Ichthyosis


16th of August 2012 10:30 AM DHAS....

I stepped inside the labour room as usual to conduct a normal delivery.  The patient who was un-booked and un-investigated did not at all surprise me.  It is ok in this part of country where the patient belongs to a rural area.  Uterine contractions getting strong and stronger pushing the baby out was all normal.  The moment the baby was delivered it left everyone present astonished.  I could not believe my eyes.  99% of all the staff members had never seen, such.  How could God be so unfair?  I discussed with my seniors, looked over Google and found it to be a rare and serious form of congenital skin disorder- Harlequin-type Ichthyosis.


Harlequin-type Ichthyosis (also known as Harlequin baby, Harlequin Ichthyosis, Ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus and Ichthyosis congenita gravior).



It is the most severe form of congenital skin disorder characterized by a thick keratin layer in human skin.  The skin contains massive, diamond-shaped scales, with areas of bleeding in between. This is caused by severe hyperkeratosis. The thick scaly keratin, limiting the child's movement results in cracked skin.  This makes it easier for micro-organisms to gain access, resulting in serious risk of fatal infection.  The whole body in general may be abnormally contracted.



The name harlequin-type is coined because of baby's apparent facial expression and the presence of diamond-shaped scales (resembling the costume of Arlecchino).  The disease can be diagnosed in early pregnancy by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis.  In addition the common features can be recognized through ultrasound, and follow up with a 3D ultrasound to diagnose the condition.



It is associated with a mutation in the gene for the protein ABCA12.  Its prevalence rate is <1/1000000 births and inheritance is Autosomal recessive type.



In sufferers there is severe cranial and facial deformities, with poorly developed or absent ears and nose.  The severely everted eyelids makes the eye and the area around very susceptible to infection.  Bleeding can sometimes be present; giving a fierce look.  The lips are fixed into a wide grimace.  The extremities are almost always deformed.  The thick scales present restricts the movement.  The thick keratin layer prevents normal heat loss and can result in hyperthermia.  Hypoventilation and respiratory failure can occur as a result of restricted chest wall movement.
video


25 comments:

  1. It's heartbreaking to see. I take it that all babies born with this die? How long do they live for? They must be in such great pain.

    ReplyDelete
  2. If treated immediately at birth and followed for a while after, they have a good chance of surviving. Left to dry out, they often become septic and die, or die from being unable to expand their lungs. Successful treatment involves placing the baby in a high-humidity crib in the NICU and constant application of aquaphor and sometimes steroids until the thick scale comes loose. Once they survive infancy, the babies are usually bright red and have a layer of dandruff-like flakes that have to be maintained for the rest of their lives.

    I know several young adults with harlequin. One is a triathlete. Another is pregnant, and two more are in college. I also know several younger children that are affected.

    ReplyDelete
  3. How did ypu treat the baby's condition? In the movie it looks like it was just put away to die..

    ReplyDelete
    Replies
    1. I assume that this baby was close to dying and there is no chance of saving it, I don't like how they let it suffer like that, it looks terrible. there needs to be some way of putting it out of its misery humanely and quickly. :(

      Delete
    2. Actually, recent discoveries in treating HI (Harlequin Ichthyosis) have found a way of prolonging the baby's life to the point when they are no longer afflicted. There is a 29 yr. old woman who had this and is as healthy as you and me, she's just a little bit red is all. Look up treatments for a more in-depth idea.

      Delete
  4. What was the result of this case, how soon after the video was taken, did the baby pass away?
    Please reply.

    ReplyDelete
  5. Please, watch this video: http://www.youtube.com/watch?v=SM88sZZz2iY

    ReplyDelete
  6. Plagurism is bad. Just ask Wikipedia.

    ReplyDelete
  7. It's a shame that such babies like this suffer, but I'm glad to hear that there is treatment and they can survive and grow up. To be honest though, from a visual standpoint these babies are really cool looking!

    ReplyDelete
  8. There is lot of research going on now. It is also found that use of RETENOID can help harlequin baby. Many baby dies in early life while few of them grow and live the life. Advanced medicine made it more easy to treat harlequin Ichthyosis.

    ReplyDelete
  9. I'm looking for an honest response here among faith believers. How do you account for this? Do you honestly believe this is god's will?

    ReplyDelete
    Replies
    1. The fall. The cursed world. Damaged goods coming out of the garden. This seems to dispute the theory that mutations in DNA are beneficial. They cause death and suffering, this was what sin brought into the world, not God. We are responsible. God made everything good. Sin damaged, and is damaging creation. Creation groans for the restoration. Read it. This is extremely sad, as all death and suffering is. The children and people who do not survive, go to be with Him, where there is no death and suffering. This is a reminder of our fallen world, the mistrust that we have in God the Creator. We don't trust Him. We want to make our own kingdom here on earth. He says to pray for his will. It is not his will for death and suffering, Jesus knows this first hand, paying the price. He knows what death and suffering is. His life was immersed in it and then he experienced it. Don't blame God, this is our doing.

      Delete
    2. lol. cant tell if troll or just really really thick

      Delete
  10. :( I had always though Epidermolysis Bullosa was the worst skin disease a child could be born with but I think this is right up there with it. So sad.

    Lisa

    ReplyDelete
  11. I dont think it is right to let these children make it, it may seem crawl, but it is our own fear of dying that keeps them on, mother natures knows best and genetic problems are coming thick and fast into the human gene pool, its crawl to say but it should be put down...

    ReplyDelete
    Replies
    1. I would tend to agree, but then again survivors might live a life as full as anyone else willing to do so. Mother nature doesn't looks like a sentient being, more as a random combinator of events, wich afterwards filters out what doesn't work. We call it mother thinking at it's beauty but it's a relentless process, the outcome of which may not always please us.

      Delete
  12. I hate the fact that this poor little baby is placed in a steel bowel with some gauze being filmed gasping for air instead of the dr doing his job its heart braking this man shouldnt be a dr that is whats cruel. regardless if he is going to make it or not no innocent baby should spend its last moments like that. what cruel people. I understand they are in india and my not have everything needed but they should at least be tryin more.

    ReplyDelete
  13. Raven i agree with you 100% ..no words to say anything but sad,very sad ...

    ReplyDelete
  14. I hope the little baby turned out ok.

    ReplyDelete
  15. How long did they leave the child lying on some gauze in a metal tray. The baby is a person, not a specimen.

    ReplyDelete
  16. Dear child, sweet child
    Rest now, sleep now
    Everything will surely be
    Alright...

    ReplyDelete
  17. Seriously, you couldn't have made the poor baby more comfortable?!

    ReplyDelete
  18. POOR BABY! POOR POOR BABY! I am furiously sickened and disturbed to see him/her just plonked into a tray and gauze as if s/he was nothing! The question is How can doctors b so unfair? To just stick it on the tray like an object not How could God be so unfair! This beautiful baby was clearly in need of pure TLC during this filming yet all you could do was stand there with a camera! Doesnt matter what country you are in, you are supposed to be a doctor! Act like one! This is not professional behavior at all have some fkng respect and compassion for this precious blessing! I hope and pray s/he is in a better place now, in better hands than a freakin so called doctor!

    ReplyDelete
  19. This is so sad ... my heart breaks for this baby.... why can nature be so cruel? ... I hope he/she wasn't in pain and passed away peacefully.

    ReplyDelete
  20. My heart hurts for this beautiful baby! I would hope that the mother at least got a chance to hold her child and try and comfort he/she did pass (if he/she passed). My prayers for this baby and every other person with this truly horrible condition!

    ReplyDelete