Humans are complicated creatures, relying on genetics and the environment to make the mind and body function. But occasionally, things go wrong. Let's take a look at...
Cat-Eye SyndromeUnusual-looking eyes are a feature of many fictional characters, but the reality is much less fun. This chromosomal disorder can have various physical effects - and not all sufferers even present the characteristic cat eyes that are the namesake.
The effect is caused by a split in the iris beneath the pupil, known as a "coloboma." This gives the appearance of an elongated pupil, resembling a cat's eye or a keyhole. Despite this abnormality, most retain the ability to see.
The disorder can come with a wide range of other effects, applying to everything from the digestive system to physical height and intellectual development. Though individuals may have a shortened lifespan, most sufferers can expect to reach a normal age.
Those suffering from the disorder experience their muscles, tendons and ligaments slowly transforming into bone. The process progressively reduces mobility, even interfering with attempts to eat and breathe. Just to top things off, injuries can speed up the process of ossification in that location - as can viral infection.
Examples of the syndrome are universally strange. One Filipino immigrant living in New York claimed that she had died and requested access to a morgue to be with her peers. Another man believed he had no stomach and a non-functioning heart and bowel.
Interestingly, ECT (electroconvulsive therapy) has been found to be effective in the treatment of this disorder - reminiscent of Frankenstein bringing his creation to life, but in reverse.
A Walking BreweryThe human body is a biological factory filled with complicated chemical processes that keep each other in balance. Sometimes things go a bit wrong, though, and certain individuals develop excessive populations of yeasts or bacteria in their guts.
People with auto-brewery syndrome may find themselves becoming drunk after consuming carbohydrates since they will ferment in their innards. The resulting alcohol can actually impair the sufferer, leading to positive breathalyzer results or injuries from clumsiness!
Sufferers age rapidly in childhood whilst lacking fat, normal growth or hair. At the same time, their arteries harden, and the risk of suffering a stroke or heart attack increases dramatically - even at a young age. Despite all this, they typically lack any cognitive or motor issues, leaving them a child trapped in an old body.
This condition actually has a real effect on the well-being of most sufferers, though certain variants of it are associated with pulmonary problems. Of course, if you need surgery and the medical team is unaware of your condition, things can get... complicated.
Jigsaw BonesThere's an old saying, "that which doesn't kill you makes you stronger." Whilst the saying is deeply flawed anyway, individuals with fibrous dysplasia are living examples of just how incorrect it is. This genetic condition slowly replaces healthy bones with fibrous scar tissue. In essence, the cells that form bone fail to mature, leaving certain bones (it varies from patient to patient) with "faults" that make them easy to break.
Those suffering from this condition experience pain, malformation of the affected bones and frequent fracture or breaks. There is currently no known cure, though reinforcing the bone with a metal rod or replacing a section of the bone with a healthy bone graft can help.
Individuals suffering from aquagenic urticaria find bathing, swimming, getting caught in the rain or even crying is hazardous. Exposure quickly brings up nasty itching rashes, much like being stung by a nettle. There's also aquagenic pruritus, in which no visible marks are present, but a persistent and severe itch begins at the site of water contact.
The underlying cause of both of these conditions is unknown due to the rarity of sufferers. One possible explanation is that something in the skin or sebaceous glands is reacting to the water, and this is the actual cause of the painful response.
Skins of BlueThough you might have "felt a little blue" in the past, the blood disorder methemoglobinemia is a rather different kettle of fish. This condition is the result of malformed hemoglobin, the conjugated protein responsible for carrying oxygen around the body in red blood cells. The condition can be genetic or acquired through exposure to certain substances. Anesthetics, antibiotics and, funny enough, the nitrogen used to make a "protective atmosphere" in packs of supermarket meat have all been implicated.
The symptoms of this disease vary depending on the cause, but a common thread is a blue coloration of the skin. This is due to cyanosis or a lack of oxygen.
Management of this condition is limited to therapy aimed at helping people deal with the stress and anxiety of having a limb where they feel they shouldn't - though in some cases, an amputation of the offending body part can help!
- Cat-Eye Syndrome
- Flesh to Bone
- The (Self-Declared) Living Dead
- A Walking Brewery
- A Geriatric Child
- The Inverted Man
- Jigsaw Bones
- An "Allergy" to Water
- Skins of Blue
- The Undesired Limb
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| Body integrity dysphoria makes a limb feel alien to the owner... (simonwijers) |
Cat-Eye SyndromeUnusual-looking eyes are a feature of many fictional characters, but the reality is much less fun. This chromosomal disorder can have various physical effects - and not all sufferers even present the characteristic cat eyes that are the namesake.
The effect is caused by a split in the iris beneath the pupil, known as a "coloboma." This gives the appearance of an elongated pupil, resembling a cat's eye or a keyhole. Despite this abnormality, most retain the ability to see.
The disorder can come with a wide range of other effects, applying to everything from the digestive system to physical height and intellectual development. Though individuals may have a shortened lifespan, most sufferers can expect to reach a normal age.
Flesh to Bone
Can you imagine what it would be like to have your flesh ossify? Fibrodysplasia ossificans progressiva is rare, occurring approximately once in every two million people. It is caused by a mutation in the ACVR1 gene that controls and regulates bone growth.Those suffering from the disorder experience their muscles, tendons and ligaments slowly transforming into bone. The process progressively reduces mobility, even interfering with attempts to eat and breathe. Just to top things off, injuries can speed up the process of ossification in that location - as can viral infection.
The (Self-Declared) Living Dead
It's a common media trope to describe someone as dead inside, but those with Cotard's syndrome believe they really are (at least partially) dead. It can manifest in different ways, ranging from believing that they are missing organs to believing that they are outright dead. More spiritual sufferers may even think they have lost their souls.Examples of the syndrome are universally strange. One Filipino immigrant living in New York claimed that she had died and requested access to a morgue to be with her peers. Another man believed he had no stomach and a non-functioning heart and bowel.
Interestingly, ECT (electroconvulsive therapy) has been found to be effective in the treatment of this disorder - reminiscent of Frankenstein bringing his creation to life, but in reverse.
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| Auto-brewery syndrome brews alcohol from any consumed carbohydrates... (StockSnap) |
A Walking BreweryThe human body is a biological factory filled with complicated chemical processes that keep each other in balance. Sometimes things go a bit wrong, though, and certain individuals develop excessive populations of yeasts or bacteria in their guts.
People with auto-brewery syndrome may find themselves becoming drunk after consuming carbohydrates since they will ferment in their innards. The resulting alcohol can actually impair the sufferer, leading to positive breathalyzer results or injuries from clumsiness!
A Geriatric Child
Hutchinson-Gilford progeria syndrome is incredibly rare, being reported in only one in four million infants. It can occur when the LMNA gene is mutated, leading to malformed cells failing to protect their nucleus. Since this leads to nucleus death, the cells of those with this condition have a much shorter lifespan than standard.Sufferers age rapidly in childhood whilst lacking fat, normal growth or hair. At the same time, their arteries harden, and the risk of suffering a stroke or heart attack increases dramatically - even at a young age. Despite all this, they typically lack any cognitive or motor issues, leaving them a child trapped in an old body.
The Inverted Man
It sounds like something from a sci-fi "alternate dimension" plotline, but some individuals have the positions of their internal organs inverted. Individuals with situs invertus may have their organ positions completely mirrored, may have everything but their hearts mirrored, or even have several miscellaneous organs out of place. This is a genetic condition occurring in roughly 1 in 10000 people. It can also occur in one member of a pair of "mirrored" twins if the embryo splits later than normal.This condition actually has a real effect on the well-being of most sufferers, though certain variants of it are associated with pulmonary problems. Of course, if you need surgery and the medical team is unaware of your condition, things can get... complicated.
 |
| Skeletons provide support, but fibrous dysplasia progressively weakens them... (IAOM-US) |
Jigsaw BonesThere's an old saying, "that which doesn't kill you makes you stronger." Whilst the saying is deeply flawed anyway, individuals with fibrous dysplasia are living examples of just how incorrect it is. This genetic condition slowly replaces healthy bones with fibrous scar tissue. In essence, the cells that form bone fail to mature, leaving certain bones (it varies from patient to patient) with "faults" that make them easy to break.
Those suffering from this condition experience pain, malformation of the affected bones and frequent fracture or breaks. There is currently no known cure, though reinforcing the bone with a metal rod or replacing a section of the bone with a healthy bone graft can help.
An "Allergy" to Water
It may come as a surprise that some people are "allergic" to water. This is particularly odd when you consider that it comprises around 60% of the human body!Individuals suffering from aquagenic urticaria find bathing, swimming, getting caught in the rain or even crying is hazardous. Exposure quickly brings up nasty itching rashes, much like being stung by a nettle. There's also aquagenic pruritus, in which no visible marks are present, but a persistent and severe itch begins at the site of water contact.
The underlying cause of both of these conditions is unknown due to the rarity of sufferers. One possible explanation is that something in the skin or sebaceous glands is reacting to the water, and this is the actual cause of the painful response.
 |
| Even being exposed to water can be dangerous for some people... (JonasKIM) |
Skins of BlueThough you might have "felt a little blue" in the past, the blood disorder methemoglobinemia is a rather different kettle of fish. This condition is the result of malformed hemoglobin, the conjugated protein responsible for carrying oxygen around the body in red blood cells. The condition can be genetic or acquired through exposure to certain substances. Anesthetics, antibiotics and, funny enough, the nitrogen used to make a "protective atmosphere" in packs of supermarket meat have all been implicated.
The symptoms of this disease vary depending on the cause, but a common thread is a blue coloration of the skin. This is due to cyanosis or a lack of oxygen.
The Undesired Limb
There's no real other way to put this: Individuals with body integrity dysphoria believe that a section of their physical frame shouldn't be present. In extreme circumstances, they may even request amputation and, if denied, mutilate themselves. It starts while sufferers are young, as a nagging sense that the body needs to be modified to "fit." Researchers believe that the developing brain fails to fully map the body - leading to a constant disconnect between your mental image of self and reality.Management of this condition is limited to therapy aimed at helping people deal with the stress and anxiety of having a limb where they feel they shouldn't - though in some cases, an amputation of the offending body part can help!
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