Stone Man Syndrome - Fibrodysplasia Ossificans Progressiva

In yet another Joanna-is-way-too-interested-in-weird-medical-conditions entry, I present you with an extraordinarily rare genetic disease: Fibrodysplasia Ossificans Progressiva (FOP).  For the handful of people stricken with this malady, the most casual of injuries can cause their body to transform into a prison of bone.  

A genetic mutation that affects the body's repair functions causes muscle, tendons, and other connective tissues to grow back as bone.  Something as simple as a bump on the head, a bruised knee, or merely time itself, can cause an individual with FOP to grow spurs of bone amid their flesh, or find their joints permanently locked in place.  

Of course, this is a disease which is extremely rare, only affecting 1 in every 2,000,000.  That means there are only ~4000 people on the PLANET who suffer from FOP.  Despite the fact that FOP is an autosomal dominant condition (meaning only one parent has to carry the gene for their child to get FOP), it is usually the result of a random mutation- neither parent will have the condition.  

The first warning sign that a child might be inflicted with the disease is a newborn's big toes.  They are shorter than the other toes, and curved in towards the rest of the foot in a deformation known as a valgus deviation.  

Later in life, as the child collects the usual bumps and falls of youth, the disease presents small tumor-like nodules over the back, neck, and shoulders.  They are painful, and often go unexplained for a time.  Sometimes they even retreat back into the body.  Mostly, though, they harden into bone during a process known as heterotopic ossification.  

Over time, spurs of bone grow from the child's head down, just as bones grow during fetal development.  They creep through the muscle of the back, over the shoulders and through the abdomen.  Eventually the hands and feet are frozen in place.

To make the curse even more bitter, any attempts by doctors to remove the patches of bone are met with more of the body's twisted method of healing: even more bone grows back in its place.  As such, there is no known cure for FOP, only treatment to give the people who suffer from it as much mobility and quality of life as possible.

However, the study of this disease has actually led to a variety of useful discoveries that can be applied to other bone-based diseases.  Even common problems such as fractures and aftercare for hip-replacement patients had benefited from the work done to understand this extraordinarily rare disorder.  Much of this work has been spurred on by the International FOP Association, founded by Jeannie Peeper (a sufferer of FOP herself).  To read more about Jeannie Peeper's awesome story, see the article linked below the jump.

So the next time you bash your knee into the coffee-table, amid your cursing just remember: at least your bruise won't grow back as bone.

-Joanna

Tree-Man Syndrome

This is Dede Koswara, and, sadly, this photograph is entirely real.  It is not some set of make-up effects from a Stan Winston School dropout.  It's the result of an extremely rare genetic disorder known as Epidermodysplasia verruciformis, a.k.a. Tree-Man Syndrome.

Individuals with this disorder are extremely susceptible to Human Papillomaviruses (HPV) on the skin.  Once HPV infects the person, their bodies are incapable of fending off the virus, and it multiplies out of control.  This produces layers of scaly macules (changes in color), and papules (fluidless bumps), usually concentrated around the hands, feet, face, and genitals.  More benign cases only suffer from flat, wart-like lesions over the body.  More malignant cases, like that of Dede Koswara, produce carcinomas and polymorphic legions.

In essence, individuals with this disorder cut or scrape themselves (usually during adolescence), breaking the skin.  At that point, they are infected by HPV, and soon their skin begins to grow into hard, scaly, rootlike structures.  It overwhelms their fingers and features, making it difficult or impossible to eat and continue everyday life.

Treatments include surgeries to remove the growths, but this is a temporary coping mechanism rather than a cure.  Various drugs and supplements are currently being tested with mixed results.

Photographs of Dede Koswara first appeared on the internet in late 2007.  As one of the most severe cases of Tree-Man Syndrome to date, he was quickly picked up by a number of American tv shows on the Discovery Channel, TLC, and ABC.  They chronicled the story of how his life fell apart once his growths became overwhelming.

When he was 10 years old, Dede was playing in the forest near his home in Java and cut his knee.  Soon warts began appearing around the cut.  They spread.  It took years, but the growths eventually crept over Koswara's body.  Though they didn't hurt or itch, they smelled terrible.  He got married and had two children.  But by the time he was 28, the growths had completely covered his hands, rendering them totally useless.  He was no longer able to do his job as a construction worker.  His wife left him.  Without the ability to work, Koswara joined a travelling freakshow to support his kids.
It was during this time that pictures of him surfaced, attracting the attention of documentary-makers.
During 2008, Dede received experimental surgery to remove some of the growths from his extremities.  It was successful, and allowed him the use of his hands for the first time in 10 years (he was 34 at the time).  At the same time, doctors gave him chemotherapy to bring the HPV under control.  Unfortunately, the treatment was cut short when his liver began to fail.

In a turn of international drama, before the treatment could be completed by an American dermatologist named Gaspari, the Javanese government became involved.  They kicked Gaspari out of Java on suspicion of taking blood and tissue samples abroad for commercial purposes.

Since the treatment, Koswara's warts have begun to grow back.  He's had to return to his parents house where they clean him and feed him; dress him in his specially zippered shirts.

I'll leave you with a quote from Koswara himself:

"They say I'm not human.  Whatever they want to say, that's fine.  I guess I am a Tree-Man...  My body has again betrayed me, but what can I do?"

-Joanna