As regular “DrGOpines-ers” know well, on three recent occasions, I have written brief paragraphs explaining unusual diagnoses. Medical science, and medical professionals, in particular, have a remarkable way with words and come up with names for diseases that often defy understanding and interpretation. Heavy reliance on Latin word roots gives the reader a bit of a clue as to the meaning of the term, but not always. The number of diagnoses is limitless so there is an extensive list from which to choose. Half of the challenge of medical education is the understanding and proper use of medical terminology, a daunting task. It’s something that comes up every day. I have chosen ten more diagnoses, some of which are known by more colloquial names.
This batch of diagnoses will be listed alphabetically.
ACHALASIA— A muscular abnormality of the esophagus in which the exit portal at the lower end of the esophagus is frequently in spasm and won’t allow swallowed food to pass into the stomach. It causes choking and coughing, fullness of the chest with the feeling of food being stuck, trouble swallowing, and regurgitation. Patients must eat slowly and take small bites. It is more common than usually thought. It progresses with age.
DERMATOGRAPHISM— The development of raised, swollen, itchy, hive-like areas of the skin which occur in response to touching, or scratching, of the skin. Pressure causes dermal cells to release histamine which causes local swelling where the skin is touched. Using a blunt pen, one can actually write words or draw pictures on the skin. These hive-like swellings can itch intensely. Although annoying, it is not an indication of serious underlying problems.
FIBROMYALGIA— A chronic disorder in which patients complain daily of generalized pain, fatigue, and insomnia. Trigger points in the skin overlying bony protrusions are very tender and assist in making the diagnosis. These patients are largely unhappy and depressed and live with chronic, non-cancer-related pain. There is no cure. Treatment successes are not common.
FOREIGN ACCENT SYNDROME— A rare neurologic disorder of unknown cause in which a person suddenly speaks with an accent different than their native language. It can also include tone of voice, loudness of talking, and inflections of speech. For example, a South Carolinian can suddenly develop an Irish brogue. I saw this in one patient who suddenly began talking like a baby. After several weeks, her nasal, infantile accent ceased, but her tone of voice was permanently higher than normal.
KERNICTERUS— Also called Newborn Jaundice. A severe disorder caused by bilirubin (the chemical causing jaundice) levels in the blood stream high enough to cause brain damage. It is preventable. Sustained bilirubin levels above 20.0 (normal is 1.2 or less) damage brain cells. Jaundice appears in the first 24 hours of life and lasts 2 weeks. High levels damage brain cells permanently if not corrected. In today’s medically sophisticated environment, kernicterus should never happen.
MESOTHELIOMA— The “litigated disease of the 20th Century!” An uncommon malignancy of the surface layer of the lungs, inner chest wall, inner abdominal wall, and testicles caused by chronic exposure to asbestos. Asbestos was a material used in making insulation for plumbing, heating, and refrigeration. Concern for health problems led to its being banned so asbestosis and mesothelioma should fade gradually out of existence. Mesothelioma causes shortness of breath, cough, and pain where lesions are located. Pleural (lung) mesothelioma has a 12% 5-year survival rate. Long ago, lawsuits over asbestos were settled, but law firms are still profiting from settlements paid to mesothelioma sufferers.
SPRUE— Also called Celiac disease, Celiac Sprue, or Gluten Enteropathy. It is the inability of the intestines to properly absorb foods that contain gluten and protein-related food substances, mostly wheat, barley, and rye. Sprue causes diarrhea, bloating, loss of appetite, and weight loss. Treatment is preventive by the avoidance of eating gluten-containing foods. Untreated, it leads to severe malnutrition.
STONEMAN SYNDROME— A rare genetic syndrome in which muscles, ligaments, and connective tissues slowly and progressively turn into bone. Joints become stiff, fuse together, and the spine stiffens and fuses. These patients have a shorter life expectancy (avg. 56). Also called FOP—Fibrodysplasia Ossificans Progressiva.
TRISOMY 21– Also known commonly as Down Syndrome, patients have a third chromosome number 21, thus the term trisomy 21, which leads to all the findings seen in Down’s patients —flat nasal bridge, slant eyes, short neck, small hands and feet, palmar hand crease, developmental and intellectual delay and disabilities, and speech and language problems.
URTICARIA— Also called hives or welts, or in Kentucky, “wheps.” It’s the “money” part of dermatographism, defined previously. Hives are triggered by many things but are an allergic inflammatory reaction to some external stimulus. Again, when cells are triggered, histamine is released and causes itching, swelling, and skin discomfort. People with allergies are more prone to urticaria. It can be difficult to treat. The best treatment is avoidance of setting it off.
Eight of the ten diagnoses I have seen personally. I have not seen Kernicterus because it is prevented by controlling bilirubin levels or Stoneman Syndrome because it is extremely rare. Seven of the other eight are common enough that most family doctors have seen and treated them. The real challenge in medicine is being able to recall disorders you saw maybe once thirty years ago. But most people I knew in medicine (and I do mean MOST) were so excited for knowledge and were so motivated to learn, that recalling an obscure syndrome, or the signs or symptoms thereof, was very easy for them. When you have an inquisitive mind that absorbs every nuance of a disease, remembering it becomes easy.
