Friday, March 23, 2007

Blah de Blah's Disease

Sheesh. There are a lot of long winded names in dermatology. Take, for instance:

Bullous Congenital Ichthyosiform Erythroderma
Tumid Lupus Erythematosus
Palmoplantar keratoderma mutilans

These are just “moderately” long terms, but a mouthful to say. Imagine having to use the full term several times in a conversation with a colleague. Tongue twisting! So we’ve resorted to acronyms that “people in the know” understand. Like “bullous CIE” or “tumid LE” or “PPK mutilans.” Which is fine once you’ve learned the lingo, but I still remember starting out and hearing “tumid LE” thrown about in a Grand Rounds discussion. Having no idea what that was, and embarrassed that I was likely the only person in the room with no clue, I wrote it down, planning to look it up in our textbook. Not surprisingly, there was no glossary entry under “tumid Ali" or "ali.” It tooks weeks to figure out that they were saying LE, as in lupus erythematosus, not anything related to the Ali family!

There’s also a bad habit of having several different names for the same condition. For example, bullous congenital ichthyosiform erythroderma is also known as epidermolytic hyperkeratosis, which is also known as bullous ichthyosis, but is not the same as nonbullous congenital ichthyosiform erythroderma, which is also known as lamellar ichthyosis, itchthyosis congenital type 2, non-erythrodermic autosomal recessive lamellar ichthyosis, which is not the same as congenital ichthyosiform erythroderma. Or phytanic acid storage disease, which is also known as heredopathia atactica polyneuritiformis or refsum syndrome. People, we’ve only talked about 4 diseases so far!

Actually, this one takes the cake: Severe Combined immunodeficiency, which is also known as Glanzmann-Riniker alymphoplasia, or essential lymphocytophthisis, or swiss-type agammaglobulinemia syndrome or alymphocytosis or Omenn syndrome or Reticuloendotheiliosis with eosinophilia or thymic alymphoplasia. Phew!

Then there are the last names. Everyone who ever had a say in trying to figure out the disease seems to have their names attached. Conradi-Hunermann-Happle syndrome. Rothmund-Thomson Syndrome. Christ-Siemens-Touraine syndrome. Zinsser-Engman-Cole syndrome. If you had figured out the cause of a deforming or lethal genetic disease, would you want your name to be attached to that disease? I mean, one can see how it might be ego-stroking on some level, but I for one would not want my name attached to a horrible disease.

And even if you like that kind of ego-stroking, have pity and think of the consternation it will cause for future generations! While bullous congenital ichthyosiform erythroderma is a long name, at least the name means something – the disease is congenital, scaly, has red skin, and blisters. Whereas Conradi-Hunermann-Happle means nothing unless you were Conradi, Hunermann, Happle, or their contemporaries!

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