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Top 10 Rare Diseases That Change Your Appearance

by Jonathan Hastad
fact checked by Rachel Jones

Every one of us is born looking at least a little bit different, whether it be our hair color, skin color, body shape, or any other difference. But some of us, for better or worse, are born looking significantly different. In those cases, many of which come from rare diseases, individuals can be born with appearances that, frankly, many would not believe were real.

Though history has treated those individuals poorly, in some cases even considering them mere myth, modern medicine and genetics have helped us determine the true nature of these conditions—and that they’re nothing to be afraid of. Here are ten of those conditions, rare diseases that drastically change your appearance.

Related: 10 Diseases That Prevent Other Diseases

10 Argyria

A Look Back at the Man Who Turned Blue | The Oprah Winfrey Show | Oprah Winfrey Network

Unlike most entries on this list, argyria is not a genetic condition. It is caused by excessive exposure to silver and silver compounds, meaning it can begin to present at any age. Its primary symptom: strikingly blue skin.

Though low amounts of silver are not harmful to us, repeated intake or exposure to large amounts causes the element to build up within our bodies. If the silver is taken in topically, such as through a cream, the buildup will localize in the affected area. However, if it is ingested, it will accumulate in different parts throughout the body, potentially affecting the entire surface area of your skin. Then, your body partially degrades the silver deposits, turning them into dark blue pigments that show through the skin. Those with argyria range from blue to grey depending on their level of exposure, but in any case, the condition is irreversible even if exposure has stopped.

9 Ichthyosis

What is Ichthyosis?

The name may just give this one away; ichthyosis literally means “fish condition,” and that’s a pretty accurate description of what it entails. Though ichthyosis is actually a family of some two dozen different conditions, they all share one trait in common: they harden your skin into thick, dry plates that look like fish scales.

The most common type of ichthyosis is Ichthyosis Vulgaris, a non-life-threatening form that usually affects the patient more socially than medically. The most common physical complaints cited by patients revolve around the scales’ prevention of sweating in the affected area, making the skin itch and becoming overheated more likely. Other forms of ichthyosis, such as Harlequin-type Ichthyosis, can be more severe physically and medically and even lead to death if untreated.

8 Elastoderma


Elastoderma is an exceptionally rare skin condition that most often results in, as the Genetic and Rare Diseases Information Center puts it, “increased laxity and decreased recoil of the skin.” That essentially means the patient’s skin becomes hyper-stretchable and is more likely to stay stretched out than normal skin.

The strangest aspect of elastoderma is its near-total unpredictability. It almost always occurs in individuals with no family history of elastoderma and can present itself anywhere—or everywhere—on the body. Because of its variability and our poor understanding of its root causes, there is no cure, not even standard treatment, for the condition. Even when affected areas have been surgically removed, the condition often returns after surgery.

7 Xeroderma Pigmentosum

We Have ‘Vampire Disease’. What is xeroderma pigmentosum, or XP? | Short Doc

You’ve almost certainly heard of albinism, the condition that leads to a lack of pigment and resulting sensitivity to sunlight. However, you likely haven’t heard of its much more serious counterpart, Xeroderma Pigmentosum (XP). Patients with XP have such immediate and intense reactions to sunlight that most never leave their homes or only do so in specialized full-body suits. The condition’s symptoms have led to its more common nickname, “Vampire Disease.”

At the most basic level, XP is the inability of the patient’s cells to repair the DNA damage that sunlight invariably causes. The sun damages all our DNA, but our bodies have systems in place to minimize the damage and restore a large portion of it. Those with XP, though, are missing some or all these systems, and because of that, need to avoid sunlight and other ultraviolet light as much as possible. If they don’t, their skin becomes severely burnt, and their risk of multiple types of cancers increases exponentially.

6 Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome – Trevor Wiberg – Patient Testimonial

Ehlers-Danlos Syndrome (EDS) is an unusual condition in that its presentation varies wildly. Though sometimes harmful to the point of being lethal, it can also present almost as a special talent of the patient. EDS often lands somewhere in the middle as more of a curiosity or annoyance. That is because the primary effect of EDS is hyper-flexibility, both of the skin and the tissue beneath.

Some individuals are lucky enough that EDS merely leaves them with overly flexible joints. Those with EDS may choose to pursue a career as a contortionist to market their rare condition. However, the overly flexible joints can increase the risk of dislocations. For others, though, EDS can cause overly-fragile skin and even fragile blood vessels, often leading to death.

5 Chromhidrosis

Sweating Different Colors? – Dear Blocko #21

Chromhidrosis is easily one of the strangest conditions you’ll ever encounter. The good news is that chromhidrosis is completely benign. The bad news is that it causes you to sweat in color. Yes, you read that right—color! Your choices of colors depend on the condition’s root causes but come in black, green, blue, yellow, and brown varieties. Their poor laundry machine must be working overtime.

The most harmful aspects of chromhidrosis are the social stigma and insecurity that come with its physical effects. Though it doesn’t harm your body, any condition that makes you stand out can be harmful to your mental health. Because of that, health experts tend to stress mental treatment for the condition more than physical treatment, which is still not entirely effective.

4 Haemolacria

Can You Cry Blood? | Don’t Be Dumb

While we’re on the subject of off-color bodily fluids, we have to mention haemolacria (or hemolacria), a condition that causes patients to cry blood-red tears. In this case, the term blood-red is unusually accurate, as the red coloration in the tears comes from them being partially comprised of blood.

A number of other conditions can lead to haemolacria, some deadly and some benign. Regardless, they all lead to blood pathways merging with the lacrimal pathways in some way, causing tears of blood. Haemolacria also has a partner condition known as hematidrosis in which the patient sweats blood instead of crying it. Both conditions could have inspired mythologies and superstitions throughout history, and both have been used by some to try to denigrate or dismiss several Biblical accounts of supernatural bleeding.

3 Myostatin-related Muscle Hypertrophy

3 Superpowered Genes Humans Can Inherit

If you’ve ever seen a headline that read “World’s Most Muscular Toddler,” “Strongest Baby in the World,” or some variation thereof, the article was mostly referring to a patient with myostatin-related muscle hypertrophy (MRMH). The condition is caused by a mutation in the MSTN gene, leading to reduced body fat and abnormally rapid muscle growth. On top of that, patients with MRMH rarely experience any negative side effects of the condition at all, making it somewhat of a genetic jackpot.

Patients with MRMH do not retain body fat as much and grow up to twice as much muscle mass as they otherwise would. This is what leads to children with Herculean physiques, and the effects don’t disappear with age. Though the increased muscle growth doesn’t lead to an equivalent increase in strength, it’s fair to say that MRMH has a lot of other rare conditions beat.

2 Hypertrichosis

The Boy With ‘Werewolf Syndrome’ | BORN DIFFERENT

We’ve already covered the ‘Vampire Disease,’ and so it’s only fitting that we also cover the “Werewolf syndrome.” Hypertrichosis is a rare condition that leads to abnormally thick hair growth. It can be localized to a certain area or affect the entire body. Those cases in which hypertrichosis does affect the entire body, or at least the face, lead to its Lycanthropic nickname.

As strange as it sounds, hypertrichosis is not caused by any one mutation or exposure. Nor any two. In fact, dozens of different circumstances, both genetic and acquired, can cause hypertrichosis, meaning it can occur at any point in someone’s life. Those with extensive hypertrichosis commonly found work as circus performers during less empathetic eras, often promoting themselves as missing links or human-animal hybrids.

1 Acromegaly

What is Acromegaly?

In almost every case, acromegaly is a condition caused by a benign tumor on the pituitary gland that results in excessive production of the growth hormone. Sometimes, this only results in mild symptoms like enlarged hands or jaws. In other cases, it has led to drastic increases in overall body size. In fact, acromegaly is what caused the famed stature of Andre the Giant.

And not only Andre but other giant wrestlers such as the Big Show and the Great Khali. On top of that, there is MMA champion Antonio “Bigfoot” Silva, motivational icon Tony Robbins, and—perhaps least surprisingly—actor Carel Struycken who played Lurch in the Addams Family films.

Like other rare conditions, its presentation can vary dramatically, and so can its prognosis. In the case of Andre the Giant, his acromegaly ultimately contributed to his untimely death. Still, in the case of Carel Struycken, who is 73 and healthy, his acromegaly seems more a blessing than a curse.

fact checked by Rachel Jones