Thursday, April 2, 2009

Diagnosing The Elephant Man, part 1 - General criteria

Because Joseph Merrick is called "John" Merrick in Lynch's film(1) I will try to avoid confusion by referring to Mr. Merrick by his first initial and last name.

The Elephant Man tells the story of J. Merrick, a patient of the surgeon Fredrick Treves in the 1880s. Merrick had severe physical congenital deformities and made a livign for a number of years as a sideshow performer billed as The Elephant Man.

According to Wikipedia, Merrick has been diagnosed with a number of different conditions from elephantiasis(2) to neurofibromatosis(3), to Proteus syndrome, and back again. Proteus syndrome is an extremely rare condition characterized by overgrowths of a number of different types of tissues. Sufferers of this condition will experience accelerated growth in skin and connective tissues, including bone (this is useful to us later.) Tumors can also form in the ovaries and/or parotid (salivary) gland. Other fatty tumors may also be present. The resulting deformities can be moderate to severe(4).

The Wiki entry about Merrick and Proteus syndrome states, "During 2003, DNA tests conducted by Dr. Charis Eng on sample of Merrick's hair and bone showed no mutation in the PTEN gene (only present in some Proteus syndrome sufferers.) Hence, there is as of yet, no physical evidence to support the theory that Merrick suffered from Proteus syndrome."

It seems that not everyone agrees as to what Merrick's exact condition was. You'll notice that the entry above does not say that the gene mutation is present in all PS patients. Additionally, presence of a genetic mutation is usually not considered a criteria for a number of pathologies that have genetic markers. While researching Proteus syndrome, I found a 2006 article from the European Journal of Human Genetics(5), setting diagnostic criteria for this extremely rare condition. The PTEN mutation isn't mentioned anywhere and Merrick is named as having the syndrome.

As we launch into this analysis, let's pour a little gas on the fire of amateur medical practice, and see if we can diagnose J. Merrick's Proteus syndrome from Lynch's movie.

To diagnose John Hurt's portrayal of J. Merrick in Lynch's film, we will look at photos of Hurt as Merrick:
Hurt as Merrick

and Merrick, himself:

We should also use the photo of Merrick's skeleton, since Hurt's skeletal x-rays would be normal. ($5 to anyone who can get me a bona fide x-ray of John Hurt's distal femur to post on this site. Well okay, any x-ray of Hurt would be quite a coup!)

And here is a chart of criteria for diagnosis of Proteus syndrome, from The European Journal of Human Genetics article:

Sorry it's so small, folks! You may want to check it out with this link.

Wow! There's a lot here! Maybe we'll just hit the highlights. Let's see... As he made this film, Lynch had to show us that Merrick's signs(6) followed the general criteria of a mosaic distribution, sporadic occurrence, and progressive course.

A "mosaic pattern" can mean alternating stripes of affected and unaffected cells if we're talking about skin growths, or a mix of mutated and unmutated cells of the same type if we're talking about deeper growths. Either way, the tissue overgrowth is described as patchy, irregular, and distorting, in the article.

If we look at these photos of Hurt playing Merrick, we can definitely see distorting irregular overgrowth. It seems to me that there is indeed a mosaic distribution to those overgrowths.

Merrick in the side show

I'd like to take a moment to compliment Christopher Tucker on his make up design and Wally Schneiderman on his make up application in this film. Do these lesions resemble Merrick's exactly? No, but they're really darn close, and the texture is so... texturey!

Does Merrick show signs of, or claim sporadic flare-ups in the film? No, but that might be too much to ask. Let's face it, talking about disease minutiae can really slow down a plot. So for the sake of pacing, let's pass him on this anyway.

Treves presents Merrick at the hospital

A normal birth with signs developing between 6-18 months of age are common with this disease. Treves tells us that Merrick was a normal infant who began showing signs of his condition around three years of age. This information doesn't fit the usual picture, but patient history is often subjective. Merrick or his parents may have misremembered when he started showing signs of deformity. Or it's possible that no one noticed changes on Merrick's skin until they became very pronounced. However old he was when the overgrowths of his skin began to manifest, his appearance was normal initially, and the condition was clearly progressive from early childhood.

Thus far, through assessment of the film, Merrick has confirmed the general criteria for the disease. Next time we look at the specific criteria.

1. See last blog comments for further details.
2. A chronic condition characterized by pronounced hypertrophy of teh skin and subcutaneous tissues resulting from obstruction of the lymphatic vessels. This condition can result from infection or be congenital.
3. Tumor growths of various sizes on peripheral nerves.
4. Adsen, Esra, Meltem Onder, and Mehmet Ali Gurer. "A Mild form of Proteus Syndrome." Pediatric Dermatology 24.6 (Nov. 2007):660-662.
5. Biesecker, Leslie. "The challenges of Proteus syndrome: diagnosis and management." European Journal of Human Genetics 14.11 (Nov. 2006):1151-1157.
6. Signs are objective data from the patient such as tumor growth, blood pressure, fever, etc. Symptoms are subjective data such as pain, nausea, dizziness, etc.

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