Disturbing Disorders: FOP (Stone Man Syndrome)

F1In a letter dated 14 April 1736, the surgeon John Freke (picture below) wrote to the Royal Society regarding a highly unusual case involving a patient at St Bartholomew’s Hospital in London.

A boy, who looked ‘about Fourteen Years old’, had come into the hospital to ask ‘what should be done to cure him of many large Swellings on his back’. These growths—some of which had started to develop three years prior—were now as large as a ‘penny loaf’. Freke continued with his description of this horrifying condition:

They arise from all the Vertebrae of the Neck, and reach down to the Os Sacrum; they likewise arise from every Rib of his Body, and joining together in all Parts of his Back, as the Ramifications of Coral do, they make as it were, a fixed bony Pair of Bodice.

Freke ended the letter by adding that the boy ‘had no other Symptom of Rickets on any Joint of his Limbs’. [1]

F4What Freke was describing is a rare condition now known as fibrodysplasia ossificans progressiva (FOP). A mutation of the body’s repair mechanism causes fibrous tissue—muscle, tendon and ligament—to ossify when damaged (pictured right: torso of man suffering from FOP). Although FOP is not fatal, most die young, starving to death after their jaws freeze shut or suffocating when new bone develops, making it impossible to breathe.

Freke was the first to describe the condition in detail. However, a French physician by the name of Gui Patin may have come across FOP in the 17th century when he wrote to a colleague that he ‘saw a woman today who finally became hard as wood all over’. [2]

F3Today, FOP affects approximately 3,300 people worldwide, or 1 in 2 million. A more recent example showing the effects of the disease can be found in the Mütter Museum in Philadelphia. In 1938, a 5-year-old boy named Harry Raymond Eastlack broke his leg while playing with his sister. Shortly afterwards, bone growths began to develop on the muscles of the boy’s thigh. Within years, the condition began to spread throughout Harry’s body so that by his mid-20s, his entire vertebrae had fused together. In 1973, Harry died of pneumonia, just four days before his 40th birthday. By that time, his body had completely ossified. Even his jaw locked up, leaving only his lips to move. Before he died, Harry had agreed to donate his body (pictured above, both alive and after death) to the museum for further scientific research, where it continues to be studied today.

Given the rarity of the condition, I was surprised to find an 18th-century skeleton showing the tell-tale signs of FOP in the Hunterian Collection at the Royal College of Surgeons in London. And yet there it was, catalogued simply as RCSH/P 804.

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I wondered: whose bones were these? And how did they end up in the hands of the anatomist, John Hunter (below), for whom the collection is named after?

It turns out that when the surgeon, George Hawkins, died suddenly in 1783, he left behind a collection of anatomical specimens that were then auctioned off. Amongst them was the skeleton of an adult male with an excessive number of bony outgrowths on his rather twisted frame. Hunter—always on the lookout for rare and unusual specimens—purchased the skeleton for the extraordinary sum of 85 guineas. [3]

F6Records at the Royal College of Surgeons describe the skeleton as belonging to a 39-year-old man named Mr Jeffs. Hunter’s assistant, William Clift, later reported that he had been told that the skeleton had been buried for seven years before it was procured, presumably by Hawkins. According to Hunter,  this was ‘evident from the state of the softer parts of most of the bones’. [4]

Was this the body of the young boy whom had sought Freke’s help in 1736? If the boy was indeed 14-years-old, as Freke had guessed, that would put his death sometime around 1761. Add to that 7 years before his skeleton was recovered, and it is very possible the specimen now residing in the Hunterian Collection once belonged to the boy described in the letter.

F7Of course, like so many of the specimens residing in medical collections today, we will never be able to confirm the skeleton’s former identity. What I can say with some degree of certainty is that he must have suffered greatly in the 18th century. With no real way to manage his pain, everyday life would have been excruciating. It is also likely that he would have been unable to work at the end of his life. Depending on his financial circumstances, this could have been just as crippling as his debilitating condition.

Today, Mr Jeffs ‘stands’ next to Charles Bryne, the famous Irish Giant (right). Visitors to the Hunterian are often mesmerised by Byrne’s 7’7’’ frame, and rarely cast more than a fleeting glance at the twisted skeletal remains next to him.

Hidden in the shadows of something much bigger than himself, Mr Jeffs is to visitors what he likely was to surgeons in his day: a passing curiosity. His story, however, warrants further attention, for FOP remains incurable. There is still much to be learned from Mr Jeffs and his skeletal remains.

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1. Philosophical Transactions of the Royal Society 41 (January, 1753): pp. 369 – 370.
2. Qtd in Thomas Maeder, ‘A Few Hundred People Turned to Stone,’ The Atlantic (Feb., 1998). I cannot track down the original source for this quote; although I do know that most people incorrectly date this letter to 1692. Gui Patin died in 1672, and his letters were posthumously published in 1692.
3. L. W. Proger & J. Dobson, comps., Descriptive Catalogue of the Pathological Series in the Hunterian Museum of The Royal College of Surgeons of England, vol. 2 (1972), pp. 68-70.
4. Ibid.

Disturbing Disorders: Sirenomelia (Mermaid Syndrome)

The sea king down there had been a widower for years, and his old mother kept house for him…she was an altogether praiseworthy person, particularly so because she was extremely fond of her granddaughters, the little sea princesses. They were six lovely girls, but the youngest was the most beautiful of them all. Her skin was as soft and tender as a rose petal, and her eyes were as blue as the deep sea, but like all the others she had no feet. Her body ended in a fish tail.

Hans Christen Anderson, The Little Mermaid, 1837.

Mermaids have teased our imagination for thousands of years. One of the earliest tales originated in ancient Assyria, where the goddess Atargatis transformed herself into a mermaid out of shame for accidentally killing her human lover. Homer called them sirens in the Odyssey, and described them as beautiful singing creatures who lure sailors to their deaths. Throughout history, these seductive beings have been associated with floods, storms, shipwrecks and drownings. They have been depicted in countless mediums: in Etrurian sculptures, in Greek jewelry, and in bas-relief on ancient Roman tombs. Christopher Columbus even reported seeing these mythical creatures on his voyage to the Caribbean in 1493.

But could our concept of what a mermaid looks like actually have originated from a real medical disorder?

M2Sirenomelia is a lethal condition characterised by rotation and fusion of the legs, resulting in what often looks like a fish tail (left). It occurs when the umbilical cord fails to form two arteries, thus preventing a sufficient blood supply from reaching the fetus. As a result, the single artery steals the blood and nutrition from the lower body and diverts it back up to the placenta. Due to malnutrition, the fetus fails to develop two separate limbs.

Sirenomelia, also known as ‘Mermaid Syndrome’, is extremely rare. It affects 1 in 100,000 babies and is 100 times more likely to occur in identical twins. Usually, those born with this condition die within days.

Over the course of my research, I’ve found very little about  the disorder’s history. There are snippets here and there which claim that fetuses born with sirenomelia were sometimes preserved in jars and put on display in ‘freak shows’ during the 19th century—but these sources are frustratingly vague. There is brief mention of the condition in a four-volume atlas published in 1891 titled Human Monstrosities, but nothing that hints at how medical practitioners understood sirenomelia in earlier periods.

Perhaps because the disorder is so rare, it’s also been hard for me to locate specimens in anatomical collections. My search in the Hunterian Museum at the Royal College of Surgeons in London came up cold. I did, however, find an early 20th-century example at the National Museum of Health & Medicine in Washington D.C. There are also three fetuses in the Anatomical Museum of the Second University of Naples, which have undergone 3D bone reconstructions (two pictured below).

M3

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By far the largest number of fetuses comes from the Vrolik Museum in Amsterdam, which consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology and congenital anomalies. The collection was founded by Gerardus Crolik (1755 – 185) and his son, Willem Vrolik (1801 – 1863), who both wrote extensively on anatomical deformities in the 18th and 19th centuries. The Vrolik Museum has both wet preparations and skeletal remains, all of which are on display to the public today.

Unlike 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 the past. Most died within days of being born due to kidney and bladder failure. Even today, the odds are against those with sirenomelia, though there are a handful of examples of children living past infancy.

In 1988, Tiffany Yorks underwent surgery to separate her legs before her first birthday. She continues to suffer from mobility issues due to her fragile leg bones, and compensates by using crutches of a wheelchair to move around. At the age of 26, she is the longest-surviving sirenomelia patient to date.

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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.