Being reminded how rare dermatomyositis is

Last week, at my annual check-up, my internist reminded how rare dermatomyositis is. He told me he had not seen a patient with the autoimmune disease in his 30-year-plus career. That includes his stint as a pharmacist.

He also relayed my dermatologist’s reaction when he first diagnosed me: “You won’t believe what this guy you sent me has.”

Like my internist, my dermatologist has been in practice almost 30 years and has not seen more than a couple cases of dermatomyositis. That was why it took him about two months to come up with the correct diagnosis. If not for the woman with him that day, it may have taken him longer.

Interestingly, legendary opera soprano Maria Callas had dermatomyositis. So did four-time Academy Award winner Lawrence Olivier, who many regard among the twentieth-century’s greatest actors. See him in Shakespeare’s Hamlet (1948) above.

An Opinion from a Consulting Dermatologist

The day he diagnosed me in July 2018, another doctor was present. I cannot remember her name or her specialty. My internist last week explained she was some sort of a consulting physician on rare dermatological diseases.

After reviewing my case file, she examined my rashes. I told her and my dermatologist about the trouble breathing and my blood tests, which showed elevated antinuclear antibody. I mentioned my internist’s suspicion I had lupus.

She then asked if I had trouble walking up the stairs. I said no.

She again examined the rashes on my fingers, neck, and shoulders. I now know what she was looking for: Gottron’s papules and a shawl rash–both diagnostic indicators of dermatomyositis.

She then walked back toward the computer and exchanged words I could not hear with my dermatologist. Five seconds later, they approached the front of the exam chair and suggested dermatomyositis.

“What in the world is that?” I asked them.

Too Rare—Even for Dr. House

Being an insatiably curious House, MD fan with an Internet connection, I had heard of most common and obscure autoimmune diseases, from rheumatoid arthritis to sarcoidosis to Behçet’s.

Dermatomyositis is an autoimmune disease in which your immune system attacks your skin and muscles. It is among the rarest autoimmune diseases on the planet, affecting 16,000 people in the United States and as few as five in a million people worldwide. Dermatomyositis with little to no muscle involvement, such as mine, presents in only 5 percent of those cases.

Dermatomyositis makes only one appearance in all eight seasons of House: a passing suggestion from Dr. Lawrence Kutner when the team tries to figure out what killed former team member Dr. Amber Volakis (Season 4, Episode 16, “Wilson’s Heart.”). Of course, Dr. Kutner is wrong. I can’t help, however, thinking the writers missed a great opportunity for a final, correct diagnosis for another episode.


Becoming your own House episode

Six months have passed since scaly, irritating rashes first appeared on my elbows and knees. Based on my family’s medical history, my doctor thought it was psoriasis.

Two months later, a much larger, much more painful blistering rash appeared on my left arm. Another massive rash formed across the crest of my shoulders through my lower neck and across my chest.

This third rash—called a shawl rash by doctors—is characteristic of dermatomyositis. Add in what look exactly like all these other rashes along my joints (called Gottron signs), the results from two skin biopsies and from my blood tests, and I thought my dermatologist correctly diagnosed me.

However, yesterday’s visit to a well-regarded Phoenix rheumatologist put me right back where I was a month ago. We know I have an autoimmune disease. But after looking at the pathology reports and examining me, he hesitated to jump to a conclusion.

This is the point in an episode of House, MD, where the title character stares at his patient while his body fails him. Family demands to know what’s wrong. House replies, “I don’t know.”

Turns out, my skin biopsies only rule out psoriasis and fungal infection and confirm my immune system is attacking my skin. But as I mentioned in an earlier post, there are probably more quarterbacks capable of winning a Super Bowl than there are dermatopathologists who can differentiate dermatomyositis from lupus under a microscope.

Blood tests, at this stage, are also inconclusive. My labs show elevated aldolase—an enzyme that helps convert glucose into energy and points toward muscle damage. But all the tests for antibodies associated with myositis came back negative, except for one, which was barely detectable.

The rheumatologist also thinks my antinuclear antibodies are much too high for a typical dermatomyositis case. He also doesn’t think my muscles are weak enough.

All he is willing to conclude is I have interface dermatitis and dyspnea—that’s Greek for a complicated rash and shortness of breath.

This is the point in an episode of House, MD, where the title character stares at his patient while blood appears in the urine bag. Family members demand to know what’s wrong. House replies, “I don’t know.”

“I need answers, not tests, people,” I want to scream.

He re-assembles his team around the glass table, writes “kidney failure” on the white board and pours himself a cup of coffee.

“I need ideas, people,” he barks at his hand-selected team of doctors.

It's not lupus. Except when it could be lupus.

No, my kidneys are not failing. And yes, my doctors know much more about my condition than House’s team does 33 minutes into an episode. But like House, my rheumatologist ordered more tests. I need a CT scan of my lungs. I need my urine analyzed. And my blood has been sent to a lab specializing in detecting antibodies and other biomarkers associated with autoimmune conditions.

“I need answers, not tests, people,” I want to scream.

To make the House parallels worse, my rheumatologist has suggested lupus. Where’s a wise-cracking misanthropic diagnostician when you need him?