A couple of things are certain in the realm of human diseases: their names contain many letters and are hard to pronounce. Plus, the names don’t give you a clue as to what the disease actually is. The idea for this blog hit me when I was scanning old journal articles and came upon the word trichotillomania. That’s a mouthful and is a nightmare to spell and pronounce. Then, I got to thinking there are literally hundreds, probably thousands, of medical diagnoses that have really unusual names, that are good subject matter for a blogpost.
As I thought about unusual diagnoses and their names, it was easy to identify several with the help of Google and NORD, the National Organization of Rare Diseases, a global database of rare diseases that provides information and treatment assistance for those with a rare disorder. The 17 diagnoses I will share and explain are not all rare diseases. They were chosen because they are conditions millions of patients may have but with which Main Street America may not be familiar. At least 9 of the 17 I have seen during my training or in my practice. I will write about those nine first.
TRICHOTILLOMANIA: A mental health condition in which patients compulsively pull out their own hair leading to bald areas of the scalp, eyebrows, or other areas. It is classed in the OCD, Obsessive-Compulsive Disorder group. Spelling it is harder than diagnosing it.
SUNDOWN SYNDROME: A condition where cognitively impaired or fully demented patients become more confused, agitated, or anxious during the late afternoon or evening hours. Their medical conditions worsen and symptoms significantly increase as the sun goes down. Now I get it!
HEMIBALLISMUS: A neurologic disorder characterized by chaotic, uncontrolled, involuntary, flailing movements of one side of the body, the arm and/or leg. May be a consequence of a stroke. I had an elderly male patient who had it. Bizarre does not adequately describe his situation.
OSTEOGENESIS IMPERFECTA: A genetic disorder involving the formation of the bones where the bone structure is weak, soft, and prone to fracture. These children are small stature and very susceptible to bone injury.
PICA: A psychological disorder involving children, pregnant women, and some others where the patients are compelled to eat items that are not food—dirt, paper, clay, ice, etc. Iron deficiency anemia patients crave and eat ice. It is in the OCD class of disorders. Patients know it’s abnormal but cannot control the urge.
PEMPHIGUS: A horrible autoimmune disorder affecting the skin and mucous membranes that causes blisters and open sores mostly of the skin, but also mucous membranes. They are painful and bleed and are difficult to treat.
COMPARTMENT SYNDROME: A painful disorder often related to trauma. Pressure within the confined space of a muscle compartment compresses the nerve and artery coursing through the compartment. Pressure constricts the blood supply and the motor and sensory nerves causing tissue damage and even muscle death. It is a surgical emergency. The leg below the knee is a common site.
OPPOSITIONAL DEFIANT SYNDROME: A rebellious, defiant, hostile teenager who rejects authority and authority figures (parents, teachers, etc.) without committing a serious crime. This behavior is usually done on purpose.
ICHTHYOSIS: A genetic skin disorder in which the skin is dry and thickened and resembles fish scales. There is no cure for this disease. Other than the skin, patients have no other piscatorial characteristics.
The following disorders I have not seen in training or practice but are of interest.
FISH ODOR SYNDROME: A metabolic disorder where the enzyme that breaks down trimethylamine is absent or insufficient and “TMA” is then passed in the sweat, breath, and urine, giving the patient a foul, dead fish body odor.
LEISHMANIASIS: A parasitic infection acquired from the bite of infected sand fleas causing skin, mucous membranes, and visceral sores. Prevalent in Central and South America, Asia, Africa, and the Middle East.
AFFLUENZA: A psychological disorder when the effects of “wealth and consumerism” cause the affluent to feel guilty, depressed, unmotivated except when pursuing wealth and material possessions.
METHEMOGLOBINEMIA: A blood disorder in which abnormally high levels of methemoglobin are present causing the patient’s skin and mucous membranes to show a bluish-purple color.
MAPLE SYRUP URINE DISEASE: A rare inherited metabolic disorder in which certain amino acids cannot be broken down, thus giving an odor of maple syrup to the urine, sweat, and earwax. It’s an enzyme deficiency syndrome.
PROGERIA: A rare genetic disorder in which an infant ages much faster than normal resulting in early death. “Benjamin Button” aged prematurely, but not from birth.
DIABETES INSIPIDUS: A deficiency of anti-diuretic hormone (ADH), the chemical that controls urine volume and dilution. Without ADH, a patient urinates large volumes of very dilute urine resulting in excessive thirst and urination (polydypsia, polyuria). The more common diabetes, with a sugar problem, is diabetes mellitus.
STOCKHOLM SYNDROME: A psychological disorder in which a victim or hostage develops sympathy and/or allegiance to his/her abuser or captor. Victims have been known to reject their former life and ally with their captor’s ideology. Example: Patty Hearst
I chose these particular disorders because they are rare, odd, and intriguing. They all, also, have unusual names that don’t really tell you what they are about. PICA—how would you know what that is? Or progeria, methemoglobinemia, and pemphigus. Fish Odor Syndrome, Maple Syrup Urine Disease, and Oppositional Defiant syndrome are more revealing in their names.
Well, I hope this was interesting and enlightening, and you learned something from it. I did, as I always do when I research a subject. As I said, I had seen 9 of the 17 while in training or in practice. They are much clearer in my consciousness than the other eight. Thanks for reading.
