To further challenge your curiosity and intellect, I submit a second list of 20 diagnoses you may have never heard of but doctors must recall when patients present a complex unknown.
HYPEREMESIS GRAVIDARUM: Persistent, severe nausea and vomiting occurring during early pregnancy, lasting longer and more severe than the usual “morning sickness.” It leads to dehydration, weight loss, electrolyte (sodium, potassium) imbalances, and often requires hospitalization for treatment.
BALANITIS: An inflammatory process involving the head of the penis and/or the foreskin of uncircumcised men. It causes swelling, redness, pain, pus-like drainage, and can result in contraction of the foreskin and the inability to retract it. It’s cause is usually poor hygiene that attracts a bacterial or fungal infectious agent.
PHIMOSIS: The reason for circumcision in infants and adults, it’s the inability to retract the foreskin in uncircumcised males. The foreskin can constrict the penis impeding urination. The phimotic excess skin is excised. Phimosis can cause hygiene issues and later, infection.
BILIARY ATRESIA: A condition in infants who are born with scarred, blocked, or underdeveloped bile ducts that do not permit the flow of bile from the liver to the small intestine (duodenum). It causes severe jaundice, liver enlargement, liver damage, and light-colored (acholic) stools. It requires surgical establishment of functional bile ducts. Liver transplantation is often required. Short life expectancy is common.
BETA THALASSEMIA: A genetic blood disorder that causes low hemoglobin and thus anemia, weakness, shortness of breath, iron overload, and organ damage. Cases I saw were usually mild, not requiring treatment.
BLEPHAROSPASM: A neurologic disorder that causes involuntary blinking and squinting of the eyes that appear as exaggerated blinking. Muscles in the eyelids contract or twitch involuntarily. These patients make others around them feel uncomfortable.
BULBAR PALSY: A neurologic condition acquired when cranial nerves IX-XII (9-12) are damaged by stroke, trauma, or a congenital disorder. These 4 nerves control speech, swallowing, and chewing so patients have trouble speaking, swallowing, and chewing. Weakness or paralysis of facial muscles can occur. They may also have outbursts of inappropriate laughing or crying.
MASTITIS: Inflammation of the breast due to infection of glandular tissue. It usually occurs in pregnancy or post partum in a breast feeding mother. It may affect one or both breasts and responds to oral antibiotics and heat applications.
POLYDACTYLY: A congenital condition where individuals are born with more than the usual 10 fingers or 10 toes. Surgical excision is the only treatment if they interfere with normal activity. SYNDACTYLY occurs when an infant is born with fingers and/or toes which are fused together and not separated. I had one patient with syndactyly.
MACROGLOSSIA: A congenital or acquired condition in which the patient has an abnormally large (macro) tongue (glossia). It can affect speech, breathing, and eating. It can occur as a single problem or be part of a syndrome with additional abnormal features.
TARSAL TUNNEL SYNDROME: Usually an acquired compression of the tibial nerve as it passes through the tarsal tunnel behind the inside ankle bone (medial malleolus—inside part of the shin bone, the tibia). Nerve compression causes pain, numbness, burning, and tingling sensations in the foot area beyond the compression. Carpal Tunnel Syndrome is the same circumstance but nerve compression is at the wrist, instead of the ankle.
TELANGIECTASIAS: Dilated, small red or purple blood vessels visible just under the surface of the skin most often seen on the face (nose, cheeks, chin). They are thread-like and may, or may not, be related to underlying disease. Common in older patients. Sometimes called spider veins.
THROMBOCYTOPENIA: Refers to a lower than normal number (penia) of platelets (thrombocytes), the cells which initiate blood clot formation. It is caused by medications, infections, other disease, and causes bruising and bleeding. Low platelet counts can cause severe bleeding problems. Patients I saw with this all responded favorably to a moderate dose of prednisone, a corticosteroid.
TRICHINOSIS: A parasitic infection acquired by eating raw or undercooked meat, especially pork. It affects the GI tract, and the organisms can be found in skeletal muscle causing pain and weakness.
TRISMUS: Commonly called “lock jaw,” it happens in response to trauma, infection (tetanus), cancer, and radiation treatments. The jaw muscle becomes very tight and rigid affecting swallowing, eating, and speaking. I have never seen a case of trismus, and never hope to. Fortunately, people are diligent about tetanus primary and booster shots so the incidence of trismus is much lower than it would be otherwise.
HEMOCHROMATOSIS: A genetic disorder in which the body absorbs and stores too much iron. Excess iron is deposited in the liver, heart, joints, and pancreas ultimately damaging the involved organs. Phlebotomy (the removal of blood from a patient’s circulation) is the preferred treatment. I had two patients with hemochromatosis—the woman moved to a different city, the man had phlebotomy every 1-3 months and lived to age 84.
PARANEOPLASTIC SYNDROME: A set of symptoms or physical findings (changes) that indicate the presence of a malignancy in that person. These symptoms are not directly caused by the cancer, but are caused by reactions the body makes to the presence of cancer. Examples of symptoms are muscle weakness, fatigue, balance problems, seizures, high BP, hormone imbalances, and high calcium levels. This syndrome adds to the misery cancer patients experience and are additive to the side effects of treatment.
PELLAGRA: A dietary disorder rarely seen in the U.S. Due to insufficient dietary niacin and tryptophan, it causes Dermatitis, Diarrhea, Dementia, and sometimes Death (the 4 D’s). Diets containing foods fortified with niacin will prevent it altogether.
PHEOCHROMOCYTOMA: A rare, usually benign tumor of the adrenal glands that produces excess amount of catecholamines (epinephrine—adrenalin, norepinephrine), and is one of the curable cause of hypertension. Called a “Pheo” for short, I looked for one in every patient who had hard to control HBP, but never found one. Internal medicine professors steadfastly maintained that every hypertension work up should included urine catecholamine levels in search of the elusive pheochromocytoma.
PITYRIASIS ROSEA: A skin rash that is more common than people think. It is present on the chest, back, abdomen, and inside surface of the arms. It is preceded for up to a week by a similar, larger area called the “herald” patch. PR has a salmon-colored rash with a fine scale that appears along the “lines of cleavage” of the skin. It may itch. Usually, it requires no treatment and goes away in 4-6 weeks. I saw this condition quite often. Many cases were widespread, but still resolved spontaneously.
Thanks for reading about these unusual diseases with names that are hard to spell and even harder to pronounce. There are literally thousands of them. Names like Beriberi, polycythemia rubra vera, and stenosing tenosynovitis are just a few others to challenge your language comprehension. I am curious if you have heard of any of these. I could pick any one of thousands of disorders named for their discoverer; disorders like Waldenstrom’s macroglobulinemia or Creutzfeldt-Jakob Disease. But those don’t have names that give you a clue. I like to give you a fighting chance and let you figure by defining the Latin roots used to name it. I hope you learned something because I did.
Enjoy your reading!
