The Monster Mash – Diseases That May Have Spawned Monster Legends

We’ve all been there. Sick with the flu, we stagger around the house in a feverish state. With our baked minds marinating in a cauldron of cytokines, we can hardly formulate a complete sentence. Droopy-eyed and disheveled, we nearly scare ourselves to death when gazing at the reflection of our barely recognizable self. Terrified out of her diaper, your toddler may even run away from you with a frightful scream. As you’ll learn from the list below, there are several diseases that produce symptoms that mimic characteristics associated with legendary monsters.

Vampires

These blood-sucking creatures of the night are believed to have been inspired by the Romanian Prince Vlad, born in Transylvania in 1431. His father was named Dracul, and Dracula means “son of Dracul”. Dracula was a “defender of the Christian faith” who, ironically, gained notoriety by impaling his victims and dipping his bread in their blood before consuming it.

 

Prince Vlad before dinner (left) and after dinner (right).

 

However, the symptoms of porphyria (yes…it is pronounced poor-FEAR-e-uh!) are likely to have contributed to several aspects of vampire lore. While it sounds like a lost Def Leppard album, porphyria is actually a blood disorder that arises when patients cannot make and regulate heme properly (heme is a critical part of hemoglobin in the blood).

Porphyria can cause excessive nail growth and receding gums, the latter of which may make the canine teeth look more like fangs. Moreover, porphyria can cause skin to bubble and blister just minutes following exposure to sunlight. Look no further than 1985’s cult classic, Fright Night, to witness the awesome power of sunlight destroying a vampire.
 

 

Finally, to make up for the compromised hemoglobin production, the treatment for porphyria involves injecting patients with blood. Despite this parallel with vampirism, people with the disease do not “thirst for blood” or bite others.

Pluto from The Hills Have Eyes

Michael Berryman, best known for his portrayal of Pluto in the 1977 cult classic, The Hills Have Eyes, has an unforgettable appearance. While his role as a deranged desert cannibal haunted the dreams of millions, his character did not require hours in the make-up chair. Rather, his appearance is attributable to a rare genetic condition known as hypohidrotic ectodermal dysplasia. People with this syndrome have fewer sweat glands, sparse body hair, and missing or abnormal teeth. In addition, facial features of these individuals tend to be consistent with those seen in Berryman’s photo below. Other than heat intolerance due to a reduced ability to sweat, people with hypohidrotic ectodermal dysplasia are otherwise healthy.

 

Instantly recognizable on screen, Berryman has appeared in dozens of subsequent roles, including multiple appearances in Star Trek episodes and films.

Werewolves

On the opposite end of the spectrum, people with excessive hair, especially when it appears on the face, have long been attractions at circus sideshows. Perhaps the most famous is Julia Pastrana, also known as “the bearded lady” or “ape woman”, who caught the attention of many onlookers during her travels with “the freak show” in the 1800s. There is a name for this condition, which often resembles the classic appearance of a werewolf:  congenital hypertrichosis lanuginosa, or CHL. Babies born with CHL are usually covered in hair right out of the womb. Today, people afflicted with CHL can elect to have that hair removed with lasers.

“Don’t worry, it’s just a little hypertrichosis flare-up!”

Demonic Possession

Schizophrenia or multiple personality disorders are often cited as likely explanations for people exhibiting unusual behaviors. But an autoimmune disease called “anti-NMDA receptor encephalitis” has been recently described that also produces striking symptoms of demonic possession. A first-hand account of this ailment was written by Susannah Cahalan called, Brain on Fire: My Month of Madness.

 

Incidentally, anti-NMDA receptor encephalitis does not induce the green projectile vomiting made famous in The Exorcist. You have to go to Taco-Bell for that.

Zombies

There are a number of conditions that give people a zombie persona, such as that window of time from waking up till you get some coffee in you. While there is no disease that allows you to persist as an undead, brain-hungry zombie, there is a famous one that can drive animals to bite others:  rabies. Rabies is caused by a virus, and, thanks to Stephen King’s Cujo, most of us are familiar with how rabies can transform a puppy into a hellhound. The virus is plentiful in the salvia of infected animals and is transmitted through a bite or scratch. Many pathogens change the behavior of their host in order to spread. The rabies virus infects the brain in such a way that its host organism becomes overly aggressive, increasing the odds that the virus will be transmitted to a new victim through a bite.

Another type of disorder can lead to an eerie change in behavior with shades of zombification. A rare mental illness called Cotard delusion, or walking corpse syndrome, occurs when the afflicted no longer believe they are alive. First described in 1880 by neurologist Jules Cotard, this “delirium of negation” can run from mild self-loathing to severe depression. In the most extreme cases, the afflicted will deny the existence of certain body parts or their entire body. Consequently, they will stop taking care of themselves, even to the point of starving to death.

 

Marilyn Manson or ‘Cotard delusion’ support group?

 

For some interesting examples of zombification in wildlife, be sure to read Mark’s recent post, “Zombies And The Loss Of Free Will”.

Contributed by:  Bill Sullivan

Follow Bill on Twitter: @wjsullivan

 

Schulenburg-Brand D, Katugampola R, Anstey AV, & Badminton MN (2014). The cutaneous porphyrias. Dermatologic clinics, 32 (3) PMID: 24891059

Deshmukh S, & Prashanth S (2012). Ectodermal dysplasia: a genetic review. International journal of clinical pediatric dentistry, 5 (3), 197-202 PMID: 25206167

Kaur S, Juneja M, Mishra D, & Jain S (2014). Anti-N-methyl-D-aspartate receptor encephalitis: A case report and review of the literature. Journal of pediatric neurosciences, 9 (2), 145-7 PMID: 25250071

Ramirez-Bermudez J, Aguilar-Venegas LC, Crail-Melendez D, Espinola-Nadurille M, Nente F, & Mendez MF (2010). Cotard syndrome in neurological and psychiatric patients. The Journal of neuropsychiatry and clinical neurosciences, 22 (4), 409-16 PMID: 21037126

The Monster Mash – Diseases That May Have Spawned Monster Legends

We’ve all been there. Sick with the flu, we stagger around the house in a feverish state. With our baked minds marinating in a cauldron of cytokines, we can hardly formulate a complete sentence. Droopy-eyed and disheveled, we nearly scare ourselves to death when gazing at the reflection of our barely recognizable self. Terrified out of her diaper, your toddler may even run away from you with a frightful scream. As you’ll learn from the list below, there are several diseases that produce symptoms that mimic characteristics associated with legendary monsters.

Vampires

These blood-sucking creatures of the night are believed to have been inspired by the Romanian Prince Vlad, born in Transylvania in 1431. His father was named Dracul, and Dracula means “son of Dracul”. Dracula was a “defender of the Christian faith” who, ironically, gained notoriety by impaling his victims and dipping his bread in their blood before consuming it.

 

Prince Vlad before dinner (left) and after dinner (right).

 

However, the symptoms of porphyria (yes…it is pronounced poor-FEAR-e-uh!) are likely to have contributed to several aspects of vampire lore. While it sounds like a lost Def Leppard album, porphyria is actually a blood disorder that arises when patients cannot make and regulate heme properly (heme is a critical part of hemoglobin in the blood).

Porphyria can cause excessive nail growth and receding gums, the latter of which may make the canine teeth look more like fangs. Moreover, porphyria can cause skin to bubble and blister just minutes following exposure to sunlight. Look no further than 1985’s cult classic, Fright Night, to witness the awesome power of sunlight destroying a vampire.
 

 

Finally, to make up for the compromised hemoglobin production, the treatment for porphyria involves injecting patients with blood. Despite this parallel with vampirism, people with the disease do not “thirst for blood” or bite others.

Pluto from The Hills Have Eyes

Michael Berryman, best known for his portrayal of Pluto in the 1977 cult classic, The Hills Have Eyes, has an unforgettable appearance. While his role as a deranged desert cannibal haunted the dreams of millions, his character did not require hours in the make-up chair. Rather, his appearance is attributable to a rare genetic condition known as hypohidrotic ectodermal dysplasia. People with this syndrome have fewer sweat glands, sparse body hair, and missing or abnormal teeth. In addition, facial features of these individuals tend to be consistent with those seen in Berryman’s photo below. Other than heat intolerance due to a reduced ability to sweat, people with hypohidrotic ectodermal dysplasia are otherwise healthy.

 

Instantly recognizable on screen, Berryman has appeared in dozens of subsequent roles, including multiple appearances in Star Trek episodes and films.

Werewolves

On the opposite end of the spectrum, people with excessive hair, especially when it appears on the face, have long been attractions at circus sideshows. Perhaps the most famous is Julia Pastrana, also known as “the bearded lady” or “ape woman”, who caught the attention of many onlookers during her travels with “the freak show” in the 1800s. There is a name for this condition, which often resembles the classic appearance of a werewolf:  congenital hypertrichosis lanuginosa, or CHL. Babies born with CHL are usually covered in hair right out of the womb. Today, people afflicted with CHL can elect to have that hair removed with lasers.

“Don’t worry, it’s just a little hypertrichosis flare-up!”

Demonic Possession

Schizophrenia or multiple personality disorders are often cited as likely explanations for people exhibiting unusual behaviors. But an autoimmune disease called “anti-NMDA receptor encephalitis” has been recently described that also produces striking symptoms of demonic possession. A first-hand account of this ailment was written by Susannah Cahalan called, Brain on Fire: My Month of Madness.

 

Incidentally, anti-NMDA receptor encephalitis does not induce the green projectile vomiting made famous in The Exorcist. You have to go to Taco-Bell for that.

Zombies

There are a number of conditions that give people a zombie persona, such as that window of time from waking up till you get some coffee in you. While there is no disease that allows you to persist as an undead, brain-hungry zombie, there is a famous one that can drive animals to bite others:  rabies. Rabies is caused by a virus, and, thanks to Stephen King’s Cujo, most of us are familiar with how rabies can transform a puppy into a hellhound. The virus is plentiful in the salvia of infected animals and is transmitted through a bite or scratch. Many pathogens change the behavior of their host in order to spread. The rabies virus infects the brain in such a way that its host organism becomes overly aggressive, increasing the odds that the virus will be transmitted to a new victim through a bite.

Another type of disorder can lead to an eerie change in behavior with shades of zombification. A rare mental illness called Cotard delusion, or walking corpse syndrome, occurs when the afflicted no longer believe they are alive. First described in 1880 by neurologist Jules Cotard, this “delirium of negation” can run from mild self-loathing to severe depression. In the most extreme cases, the afflicted will deny the existence of certain body parts or their entire body. Consequently, they will stop taking care of themselves, even to the point of starving to death.

 

Marilyn Manson or ‘Cotard delusion’ support group?

 

For some interesting examples of zombification in wildlife, be sure to read Mark’s recent post, “Zombies And The Loss Of Free Will”.

Contributed by:  Bill Sullivan

Follow Bill on Twitter: @wjsullivan

 

Schulenburg-Brand D, Katugampola R, Anstey AV, & Badminton MN (2014). The cutaneous porphyrias. Dermatologic clinics, 32 (3) PMID: 24891059

Deshmukh S, & Prashanth S (2012). Ectodermal dysplasia: a genetic review. International journal of clinical pediatric dentistry, 5 (3), 197-202 PMID: 25206167

Kaur S, Juneja M, Mishra D, & Jain S (2014). Anti-N-methyl-D-aspartate receptor encephalitis: A case report and review of the literature. Journal of pediatric neurosciences, 9 (2), 145-7 PMID: 25250071

Ramirez-Bermudez J, Aguilar-Venegas LC, Crail-Melendez D, Espinola-Nadurille M, Nente F, & Mendez MF (2010). Cotard syndrome in neurological and psychiatric patients. The Journal of neuropsychiatry and clinical neurosciences, 22 (4), 409-16 PMID: 21037126

Blood. It’s What’s For Dinner.

Halloween will soon be upon us, and our streets will once again be filled with ghosts, zombies, Lady Gagas, and other terrifying creatures of the night. And you can “count” on seeing a few vampires as well, lurking through the shadows in search of blood.

Okay, so maybe not all vampires are scary. If you have trouble sleeping Halloween night, check out this movie and “howl” with laughter.

The practice of feeding on blood, known as hematophagy, is actually a lot more common than you might realize. A wide variety of creatures suck blood, including bats, ticks, leeches, vampire finches, politicians, and so on. Similar to milk, blood is an easily accessable liquid meal containing many proteins and lipids – it does a body good. Many people who are not undead also consume blood, either directly or cooked in foods like sausages, pancakes, and soups. As seen on an episode of the hit reality TV show, Survivor (Africa), the Maasai of Tanzania get their blood straight out of the tap. They cut the neck of cattle just enough to collect blood to make a milk-blood cocktail, and then allow the wound to heal for another drink in the future.  

But not all creatures can easily digest blood. Plasmodium, the single-celled parasite that causes malaria, had to evolve some clever strategies to deal with the toxic byproducts that accumulate during the breakdown of hemoglobin, the oxygen-carrying molecule that comprises approximately 96% of the red blood cells’ dry content by weight in mammals.

(a) The malaria parasite is injected into the host’s bloodstream by another bloodsucker, the mosquito. (b) Sporozoites migrate to the liver and develop into merozoites that invade red blood cells (c). (d) Gametocytes then develop in red blood cells that can be taken up by another mosquito, which will bite a new host to continue the cycle. Life cycle image from: http://www.nature.com/nature/journal/v462/n7271/full/462298a.html   

While in the red blood cell, the parasite replicates like mad. That feverish replication requires a lot of raw materials, like amino acids to build new parasite proteins. Fortunately for the parasite, those red blood cells are rich in hemoglobin, which can be broken down into amino acids the parasite can use. However, as any malarial parasite (or Dr. Dan Goldberg) will tell you, the digestion of hemoglobin is not trivial. As the parasite’s enzymes break it down, the free heme molecules that are released as by-products within the parasite’s food vacuole are highly toxic. If these heme molecules are not disposed of properly, the parasites would die in their own waste.

Bloodsucking humans have an enzyme called heme oxygenase, which can degrade toxic heme; so unlike the malaria parasite, vampires do not need to worry about heme toxicity. But they do have trouble keeping their teeth clean!

So how does Plasmodium solve this problem? If heme were lemons, hemozoin would be the lemonade. The parasite neutralizes the toxic heme subunits by sticking them together into an inert crystal structure called hemozoin. Hemozoin crystals are non-toxic and provide decorative conversation pieces to dress up the parasite’s food vacuole. Probably looks a lot like Shirley MacLaine’s house.

Hemozoin crystals formed within the food vacuole of the malarial parasite.

Incidentally, the process of building hemozoin turns out to be an Achilles’ heel for malaria, as a number of antimalarial drugs work by interfering with hemozoin formation. Unfortunately, the malarial parasite is remarkably adaptive and has evolved multiple ways to become resistant to several drugs in this family.

Contributed by:  Bill Sullivan

Follow Bill on Twitter.


Goldberg, D. (2013). Complex nature of malaria parasite hemoglobin degradation Proceedings of the National Academy of Sciences, 110 (14), 5283-5284 DOI: 10.1073/pnas.1303299110

Gorka AP, de Dios A, & Roepe PD (2013). Quinoline drug-heme interactions and implications for antimalarial cytostatic versus cytocidal activities. Journal of medicinal chemistry, 56 (13), 5231-46 PMID: 23586757

The Friday Five

Highlighting some of the coolest science news we’ve seen lately.

1. Big news in regenerative medicine this week: scientists have grown the first working organ in a lab (a functional thymus was generated from reprogrammed fibroblast cells).

2. It sounds fishy, but zebrafish are helping scientists study potential mechanisms underlying Alzheimer’s disease.

Zebrafish are excellent model systems that help scientists learn about development and disease

3. Another interesting development for Alzheimer’s disease this week. Studies have revealed that infusing the blood of young mice into older mice reverses some of the aging process. Physicians will soon be testing if blood plasma from people under 30 can alleviate the symptoms of Alzheimer’s.

Sorry, Barnabas, but drinking the blood does not work.

4. Better science, better pizza. Scientists set out to “quantify the pizza baking properties and performance of different cheeses”, and the results are described here. Have they found the perfect combination of cheeses? I look forward to trying…

5. Time for a coffee break? No doubt you are familiar with the trademark “coffee ring” that results from spilled coffee, which decorated many of the journal articles I read back when we used to print them out. Based on this study, the video below shows coffee particles in action, forming that characteristic ring.

Science quote of the week:

“Nothing in life is to be feared, it is only to be understood. Now is the time to understand more, so that we may fear less” --Marie Curie

Contributed by:  Bill Sullivan

Follow Bill on Twitter: @wjsullivan

Villeda SA, Plambeck KE, Middeldorp J, Castellano JM, Mosher KI, Luo J, Smith LK, Bieri G, Lin K, Berdnik D, Wabl R, Udeochu J, Wheatley EG, Zou B, Simmons DA, Xie XS, Longo FM, & Wyss-Coray T (2014). Young blood reverses age-related impairments in cognitive function and synaptic plasticity in mice. Nature medicine, 20 (6), 659-63 PMID: 24793238

Yunker, P., Still, T., Lohr, M., & Yodh, A. (2011). Suppression of the coffee-ring effect by shape-dependent capillary interactions Nature, 476 (7360), 308-311 DOI: 10.1038/nature10344

Ma, X., Balaban, M., Zhang, L., Emanuelsson-Patterson, E., & James, B. (2014). Quantification of Pizza Baking Properties of Different Cheeses, and Their Correlation with Cheese Functionality Journal of Food Science DOI: 10.1111/1750-3841.12540

Bredenkamp, N., Ulyanchenko, S., O’Neill, K., Manley, N., Vaidya, H., & Blackburn, C. (2014). An organized and functional thymus generated from FOXN1-reprogrammed fibroblasts Nature Cell Biology DOI: 10.1038/ncb3023