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.