TILIR #9-10: Feast and famine

Some days is truly difficult to come up with a single concrete thing that I've learned. I'm obviously still learning how to be better at my job, how to be more efficient, how to play nice with others, etc. but rarely can those intangibles be made solid enough to write about. That was Thursday; I had to scrape together a tidbit about a rare disease that I just don't know as well as I should.

Friday I was working with a different doctor and our patient mix just happened to lend itself to a veritable deluge of teaching moments. Buckle up! I promise most of them are pretty interesting!

ThIL: Ehlers-Danlos syndrome is a condition marked by too much elasticity - of the skin, of the joints, and (here's where we get into trouble) of the walls of some blood vessels. There are currently 13 subtypes of this syndrome, varying by different presentations. For instance, there are some subtypes that also have eye problems (known as "brittle cornea syndrome"), and others that have bony changes including bowed legs and scoliosis. Unsurprisingly, there are many different genetic mutations that can cause this condition.

FIL:

• Grand Rapids was where the first pertussis (whooping cough) vaccine was developed. In the early 1930s, two scientists by the name of Pearl Kendrick and Grace Elderington did basic research to help learn about the disease and then developed a vaccine. Most vaccine testing at that time was done on orphan or institutionalized children because it was easier than convincing parents to test a vaccine on their children. But Kendrick and Elderington built a coalition of health department officials, doctors, schools, and parents in Kent County to trial the vaccine on a diverse group of kids from throughout the community. These two women should be as well know as Salk who developed the polio vaccine, but they always refused publicity despite saving untold hundreds of thousands of lives.
  
• There is a newly approved treatment for hyperhidrosis (sweating a lot (like a lot, a lot (like your-hands-are-always-dripping-and-your-shirt-is-never-dry a lot)). It's a topical anticholinergic, which is great because you get all the benefits of the systemic drug with far fewer side-effects. Up until now, we basically had intense powered antiperspirant or an invasive neurosurgical procedure to cut the nerve chain that controls sweating.
  
• A halo nevus (aka leukoderma acquisitum centrifugum 'cause dermatologists are horrible) is a mole that the body eats from the outside resulting in a progressively shrinking dark spot with an inwardly thickening ring of light skin. The mole disappears pretty quickly and then the white area gradually fades. It's nice to have an immune system that will attack moles, however it comes with a risk. These same antibodies that attack the pigment cells of the mole can sometimes go crazy and attack all the pigment in all of the skin, leading to vitiligo where large patches of skin will turn stark white.

  

  A rough diagram of the progression of a halo nevus

• Singulair (montelukast) is a common asthma medication of the leukotriene inhibitor class. It actually has a competitor that isn't used very often called Accolate (zafirlukast). I had never even heard of it. It's probably less well known because it must be given twice a day rather than one a day, and it is significantly more expensive (not that Singulair is all that cheap anyway).
  
• One "small" section of the large ethnically Dutch population in West Michigan is the Frisians. They originate from the Friesland province in the Netherlands, which is the only province to have it's own language and is historically known for the exceptional height of its population. This does throw a kink in using US national averages for growth charts during well-child visits. Telling someone he is at the 60th percentile in height nationally is awfully misleading, since in certain high schools he is likely one of the shorter guys in his grade.
  
• Paroxysmal kinesigenic dyskinesia is a very rare neurological disorder that actually describes itself fairly frankly (for medicine). Symptoms consist of occasional weird movements caused by quick, voluntary movements. For example, jumping out of bed can trigger dance-like movements of the legs. There are some antiepileptics medications that can lessen the frequency of episodes but eventually, most people just grow out of it over time.
  
• And then finally we have something that, confusingly, I learned through fact-checking for this blog. Or rather, I learned that I already knew something and that my attending was trying to teach me something incorrectly. Prolonged use of a pacifier, continued bottle-feeding, and thumb-sucking do indeed have long term effects on orthodontia. Word to the wise: if someone tries to teach you something by prefacing with "just think about it..." instead of "studies have shown...," be dubius.