Disturbing Disorders: A Brief History of Harlequin Ichthyosis

H2Last Saturday, I was lounging around on the couch watching 5 straight episodes of Forensic Detectives (don’t judge) when I heard my computer ping. Being the internet junkie that I am, I immediately checked my inbox and saw a message from my old school friend, Andy, who is currently studying medicine at Case Western. He had an idea for a blog post, he wrote, but worried it might be too disturbing for my audience. Naturally, my curiosity was piqued.

Turns out, Andy had reason to worry. In the next message, he attached a photo of a 19th-century fetus (left), which is now housed at Museum Vrolik in Amsterdam. The baby had died from a very rare genetic disorder known as Harlequin Ichthyosis, which causes the overproduction of keratin protein in skin. As a result, those with the condition are born with huge, diamond-like scales all over their bodies, and usually die young due to infections from cracks in the skin.

I have to admit, I’ve seen and researched many terrible diseases, and yet I had a gut reaction to this particular specimen. For me, there is always a deep sadness attached to a child’s death—and even more so when one considers the pain and suffering that brought on such a premature demise. But it wasn’t necessarily the fact that I was gazing upon a life cut short that most disturbed me. It was the extremeness of the deformity that gave me pause. Was this a subject I should tackle on my blog?

As you are reading this post, you will know what decision I finally made in the end. Although Harlequin Ichthyosis is a horrible condition, it is still part of our medical past, present and future (since we have yet to find a cure). For that reason, alone, it deserves contextualization here. More so, our own emotional reactions to the specimen above may help us understand why people in the past feared disfiguring diseases, like smallpox or leprosy, and why many people today continue to struggle when interacting with those who suffer from serious deformities and disabilities.

Harlequin Ichthyosis’s history begins on 5 April 1750, when Reverend Oliver Hart—a cleric from Charleston, South Carolina—became the first to document (but not necessarily observe) the condition. He wrote:

I went to see a most deplorable object of a child, born the night before of one Mary Evans in ‘Chas’town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. [1]

Mrs Evans’s baby died 48 hours later.

Hart’s description was very accurate. Babies born with Harlequin Ichthyosis have poorly developed ears and nose (which are sometimes absent altogether). Their eyelids are turned inside out, leaving the eyes and area around them susceptible to trauma and infection. They often bleed when they are born, and their lips—pulled upwards by the dry skin—resemble a clown’s smile.

H1Those suffering from Harlequin Ichthyosis are also extremely susceptible to hyperthermia; and they are frequently dehydrated as their skin is not well suited to keeping water or heat in. They often have difficulties breathing due to their armor-like scales, which impede the chest wall from expanding and drawing in enough air. Sadly, this can lead to respiratory failure in many infants.

The disorder’s name alludes to the character Harlequin in the Italian Commedia dell’arte, which made its debut in the 1580s. The Harlequin is characterized by his chequered costume. As you can see, the disease mimics a similar pattern on the skin of the afflicted.

In the past, babies born with Harlequin Ichthyosis had no hope of living more than a few days. As a result, there is very little mention of it in 18th- and 19th-century medical books; and I have only come across two preserved specimens in anatomical collections: one from Museum Vrolik in Amsterdam (mentioned above), and the other from Musée Dupuytren in Paris (pictured below).

H3Advances in medicine, however, have made it possible for people with this condition to live into young adulthood. Improvements in neonatal care, combined with the use of topical retinoids such as Isotrex which enable the skin to shed cells faster than they are produced, are helping to make Harlequin Ichthyosis a chronic condition rather than a fatal disease.

Just last year, 20-year-old Stephanie Turner—who herself was born with the disorder—gave birth to a perfectly healthy baby boy. Hope springs eternal.

 

1. Qtd from J. I. Waring, M.D., ‘Early Mention of a Harlequin Fetus in America’, American Journal of Diseases of Children, Vol. 43 No. 2, February 1932.

*This is the first article in a series called Disturbing Disorders. If you would like to learn more about Harlequin Ichthyosis, or donate to research, please click here.

19 comments on “Disturbing Disorders: A Brief History of Harlequin Ichthyosis

  1. Heather Lynn says:

    Thank you for also writing about this condition,. my as well daughter was born with Harlequin Ichthyosis in 2013, she is now thriving and doing very well after a pioneering therapy known as Nanobubble Oxygen Therapy. I detail the information at http://www.facebook.com/whitewatercompany. There is so much on the internet that over sensationalizes the disorder, and I thank you for bringing awareness to Harlequin with your post.

  2. Gail Komorowski says:

    I would like to let u know I was born with ictchosis. Now that I am 52 yrs old have been diagnosed with harlaquen ictchosis. I truly wish one day a cure or some kind of better treatment will help with this high maintenance condition. It limits my daily life activities, I suffer from allergies. I am constantly trying to find a better life style to make me more comfortable. PLEASE help with any new information. Sincerely Gail Romero Komorowski 116 E Virginia St. La Veta Colorado 81055. 303 890-4155

    • Tina says:

      Think.you.are.mistaking.this.for.something.else…..The.oldest.known.person.with.Harlequin Ichthyosis.is.currently.31.(2015),.second.oldest.is.23:.most.pass.long.before.their.20’s.from.infection….Best.of.luck.getting.the.correct.diagnosis.and.treatment.for.your.troubles,and.may.you.find.ways.to.deal.with.them.that.give.you.peace.

      • Lyric says:

        My sister has this and yes she is diagnosed correctly, she is now 24 and gave birth to my nephew 4/6/2015 who is very much healthy. If anybody could help with any new info please dont hesitate to let me know. We are from Philly, 215-291-2860

    • liz says:

      52 years old? If this is true, that would likely make you the oldest harlequin ichthyosis survivor, and I would suggest reaching out towards the medical community or a similar news outlet. I’m sure that will also widen your audience group for those who can help!

    • Heather Lynn says:

      Gail , feel free to contact me anytime, my daughter too has Harlequin and we pioneer a new therapy that you may be interested interested in learning more about. http://www.facebook.com/whitewatercompany

  3. […] Disturbing Disorders: A Brief History of Harlequin Ichthyosis  […]

  4. […] stand out, such as the case of “Mermaid Syndrome” or Sirenomelia, a brief history of Harlequin Ichthyosis, the history of dentures entitled “Dead Men’s Teeth”  that include early […]

  5. […] the first disorder I examined in this series—Harlequin Ichthyosis—sirenomelia is extremely fatal. There are no accounts of anyone with this condition surviving in […]

  6. jeanjames says:

    Respectfully covered; a condition I have never heard of or remember learning about in nursing school. Thanks for such an informative post.

  7. […] of Congress: Ring Around the Rosie: Metafolklore, Rhyme and Reason The Chirugeon’s Apprentice: Disturbing Disorders: A Brief History of Harlequin Ichthyosis History of Medicine in Oregon: Video: Videos index Forbidden Histories: “Hypnosis in Spain […]

  8. Thank you for sharing this. It is heartbreaking but as you remind us in your post, it is a part of our medical past, present and future.

  9. Blathering says:

    I researched this condition with a nursing student at my library years ago. I had purposely blotted out the name from memory because the images accompanying the text was so horrifying and sad.

    I always wondered what did the nursing student do to make his professor assign such a disturbing disease.

  10. Kate says:

    Reblogged this on BitterSuites and commented:
    Harlequin Ichthyosis is tragic and in the past very deadly.

    I will warn that there are photos on this post that may disturb some. And I’ll throw on a trigger warning for historical child death.

    Personally, I find it fascinating what the human body can do when it goes wrong.

  11. Courtney says:

    Thank you for writing about this condition in a sensitive and straight-forward way. My daughter was born with Harlequin Ichthyosis in 2011, and she survived a very rough first year and is now 2.5 and doing well. I blog about our family at http://www.blessedbybrenna.com. There is so much on the internet that exploits or sensationalizes the disorder, and I appreciate you bringing awareness to Harlequin with your blog post.

    • Thank you so much for your message, Courtney. It means a lot to me that you felt I dealt with the subject in a sensitive manner. I hope this article helps spread the word about Harlequin Ichthyosis. I visited your blog – you have a beautiful family and I wish you all the best in the years to come with Brenna.

  12. akes me glad all I have is ichthyosis vulgaris!

  13. julieallyn says:

    Fascinating, as always. I’m reminded of that haunting film The Elephant Man. That human beings (and their families) should suffer so has been instrumental in guiding my religious views. Such conditions seem more the result of the randomness and chaos in the universe and indeed if a deity would decree that a ‘child of god’ should be consigned to such a fate — well, to my mind this doesn’t speak too very highly of said deity.

    Thanks for the post. Very interesting.

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