5 diseases that sound made up, but are very real

Naming diseases after Disney princesses, comic book superheroes, and literary characters may seem trivial, but a disease’s name can affect people in ways that are far from fictional—especially in cases where awareness matters. In their lifetime, 1 in 20 people will live with a rare disease like the ones described below. But despite this, there is no cure for many of these diseases, and many more patients go undiagnosed. A colloquial name could mean the difference between wider awareness, improved diagnosis, more research investment, or continued anonymity.

Here are 5 rare conditions named after popular fictional characters that you might not have known about, but won’t soon forget.

Rapunzel syndrome

Trichobezoar, or Rapunzel syndrome, occurs when swallowed hair collects in the stomach, which can develop into hairballs and reach the small intestine or beyond.

This extremely rare condition is a type of bezoar—in this case, an accumulating mass of indigestible hair—which results in gastric outlet obstruction.

Signs and symptoms of Rapunzel syndrome include early satiety, bloating, anorexia, and vomiting after meals. Other signs include patchy hair loss on the scalp and acute upper abdomen pain. This condition often requires surgical removal of the bezoar, which should be followed up with psychiatric treatment.

Rapunzel syndrome is often associated with hair eating disorder and hair-pulling behavior, which is most common in children and adolescents. A BMJ case report that reviewed 88 cases of Rapunzel syndrome found that 40% of patients were under the age of 10 and 94% were female.

Mad Hatter’s disease

A 1995 case study published by Cambridge University Press detailed the medical history of a 38-year-old man who was exposed to dangerous levels of inorganic mercury. The patient suffered from symptoms including stomatitis, or mouth and lip inflammation, muscle spasms, and a syndrome known as erethism, or Mad Hatter’s disease. This condition results in behavioral changes, emotional disturbances, gastrointestinal complications, and leg weakness or partial leg paralysis.

Mad Hatter’s syndrome earned its name from its propensity to affect men who worked as hat makers in the 19th century. During the manufacturing process, many were exposed to high levels of mercury, like the man in the case study above. (Likely the origin for the phrase “mad as a hatter.”) In this patient’s case, he developed the syndrome on the job after cleaning an industrial tank of phenylmercuric acetate.

Nutritional supplements can be used to treat the toxic effects of mercury through a process of chelation therapy. A diet that is heavy in sulfur, which is found in foods such as onions and beans, can also protect the body against toxic metals.

Superman syndrome

This rare disease, which affects males who have an extra Y chromosome (XYY), is estimated to occur in about 1 in 10,000 newborn boys. Males with Superman syndrome may have a variety of physical differences, including above average height, large head, increased belly fat, and clinodactyly, or fifth fingers that curve inward.

Due to a lack of easily distinguishable symptoms, diagnoses usually occur later in life via chromosomal analysis. A registry study published in the Orphanet Journal of Rare Diseases found that the median age of diagnosis is 17.1 years and the lifespan of those with Superman syndrome is approximately 10 years shorter than average.

Men with Superman syndrome have 47 XYY chromosomes rather than the typical 46. They usually have normal levels of testosterone and are able to father children. The disorder is associated with an increased risk of learning disabilities and is also known to delay the development of language skills, which is often managed through both speech and occupational therapy.

The name Superman syndrome, or super-male syndrome, refers to the purported “dangerous, violent or criminal propensities” of men with this chromosomal abnormality, as described by early researchers. That characterization of these patients has since been debunked. Although males with XYY syndrome may be more likely to have learning disabilities and behavioral problems, they aren’t more likely to be aggressive or have an increased risk of serious mental illness.

Lady Windermere syndrome

Lady Windermere syndrome refers to pulmonary disease due to Mycobacterium avium complex, a pattern of mycobacterial infections found in the middle portion of the lungs. The condition is comparable to tuberculosis, which is also a mycobacterial infection, but it is not contagious in the same ways as tuberculosis. Common symptoms include phlegm, weight loss, fever, coughing of blood, shortness of breath, and chest pain. According to Brigham and Women’s Hospital, treatment may require consistent medication over a prolonged period of time, and patients may need the help of a multidisciplinary team comprised of a pulmonary specialist, infectious disease specialist, nutritionist, and social worker to properly manage this condition.

This disease’s peculiar name was first coined in 1992 by researchers who studied a small number of women who were immunocompetent with no significant smoking history or underlying pulmonary disease. The rare condition is often identified in elderly white women of thin body type, which researchers initially believed was a trend due to this group’s tendency to hold in coughs out of politeness. They named the disease after Lady Windermere, a character in an Oscar Wilde play, because her Victorian-era manners prevented her from coughing or spitting. Today, researchers believe that this condition is caused by common immune system complications, such as the reduced production of a germ-fighting protein, and has little to do with manners.

Pickwickian syndrome

Pickwickian syndrome, which was named after an overweight character in a Charles Dickens novel, is now commonly referred to as obesity hypoventilation syndrome (OHS). The condition occurs when there is too much carbon dioxide and not enough oxygen in the blood. This imbalance is caused by a patient's failure to breathe rapidly or deeply enough while sleeping, which can have long-term health effects. Symptoms include a lack of energy throughout the day, breathlessness, loud snoring, and sleep apnea. OHS is distinguished from obstructive sleep apnea because it has longer and more continuous episodes of hypoventilation overnight.

The best remedy for this disordered breathing condition is weight loss. OHS can be life-threatening if it is not properly identified and treated.