The human body is a complex thing. You may think science knows all about it but there is a lot of stuff that is still not understood by us. There are a lot of rare conditions in the world that people live with every day without knowing where they came from and how to treat them, some of them aren’t lethal but there are others that make people struggle. Today we are going to talk about 10 rare medical conditions that maybe you didn’t know about.
There are around 8.000 rare diseases that affect between 6% and 8% of the people in the world, hopefully, this and other conditions can be comprehended sometime in the near future. Meanwhile, we can create awareness around the world so the people that struggle with rare medical conditions don’t feel alone.
10. Henoch–Schönlein Purpura (HSP)
HSP is a systemic vasculitis disease that affects the skin, mucous membranes, and sometimes certain organs. It makes the blood vessels of the skin swell until the blood escapes from them and turns the skin into a purple-ish red color.
Purpura often attacks the kidneys and the intestine so the person who has it might release blood in the urine. It usually affects children and can be produced by a previous infection like a throat infection. It still doesn’t have an optimal treatment but painkillers are frequently used against abdominal pain.
9. Marfan Syndrome (MFS)
Marfan Syndrome (MFS) is a genetic disorder that affects connective tissue, making the joints and all the body features really tall, long, and over-flexible. The lungs, eyes, skeleton, heart, and blood vessels are commonly vulnerable and it also can produce several bone malformations, such as disproportionately long fingers, the chest turned to the outside or the inside, and hyperelasticity of the articulations, like curved knees and legs, and flat feet.
This syndrome affects 1 in 10,000 people and has no known cure yet, but the according treatments usually make a proper life expectancy for those who have it.
Also known as Hutchinson–Gilford progeria syndrome (HGPS) or Joseph Syndrome, Progeria is a rare condition that causes premature and fast aging in the prenatal period. It affects 1 in 7 million children and generates growing difficulties such as the overgrowth of the skull in comparison to the rest of the body.
The main symptoms are alopecia, aged-looking skin, joint disabilities, loss of eyesight, and more while the face features appear to be thin and fragile. Unfortunately, people who have this condition have a short life expectancy, usually living until their mid-teens or early twenties because of the cardiovascular complications that occur during puberty.
This disorder causes that the limbs and the body features are abnormally enlarged and hardened because of connective tissue swell. Elephantiasis is a tropical disease produced by the filarial parasite carried by mosquitoes, which severely damages the lymphatic system while obstructing it.
The main characteristics are edema and fibrosis of the skin and connective tissue. The common treatment, called diethylcarbamazine, consists of a yearly pill that will kill the microscopic worms in the bloodstream and this will slowly help to make life with this condition easier.
Believe it or not, argyria or argyrosis turns the skin blue or blue-ish gray and is popular called the Smurf disease. Argyria is produced by excessive exposure to chemical compounds that contain silver, so it is kinda common in people who have spent a long time working with metal.
It can also affect people who take colloidal silver for a certain time for treatments like dermatitis treatments or eye drops. It highly affects the eyes and light-exposed body parts, like the face and arms, causing local argyria, which can also be manifested as patched darker stains across the skin. To date, it has no cure but recent investigations have registered that quality switch lasers can help to significantly lighten skin color.
5. Stoneman Syndrome
Stoneman Syndrome’s official name is fibrodysplasia ossificans progressiva (FOP) and it is the only known medical condition that turns an organ system into another one. This disease affects around one in two million people in the world and slowly turns connective tissue (muscles, tendons, and ligaments) into bone.
It usually starts going up from the neck to the shoulders and then goes to the lower part of the body, so it directly affects the joints making it difficult to do any kind of body movement, even making it impossible to speak, breathe or eat. Essentially, a whole second skeleton grows above the first and it has no real cure but a permanent and invasive process called heterotopic ossification that tries to remove bone growth but usually triggers immense new growth.
This is a compulsive eating disorder that causes the people affected to crave and eat non-food stuff. Pica produces teeth problems and digestive system difficulties, it commonly affects children but it is often suffered by pregnant women too.
The most craved items include paint, chalk, dirt, clay, coins, and more and some people with it can show nutrient deficits, such as low iron, hematocrit, or hemoglobin, that is why some experts believe that this is one of the main causes of this disorder as it the body develops it as a way to replace those nutrients, the other reasons include mental health issues, like schizophrenia or development conditions, like autism. As it is a mental condition, it can be treated when it is addressed, and the treatment will depend on the damage done to the body.
3. Proteus Syndrome
Proteus Syndrome is one of the rarest medical conditions known and consists of a genetic overgrowth of the body tissue, like bones, skin, organs, and most of the anatomy. It is caused by the random mutation of a gene during the womb so it isn’t an inherited disease.
The symptoms start to appear once the child is born and is 6 months old and from that moment it begins to progressively get worse. It causes several health issues, poor eyesight, intellectual disability, seizures, and tumors and still hasn’t a fully successful treatment.
2. Ehlers–Danlos Syndrome
Ehlers-Danlos encompasses a group of genetic connective tissue disorders produced by the variation of a certain gene at birth. There are a few types of this syndrome and it will depend on the gene that was altered, the types go from the less to the most severe.
The condition affects the synthesis of the protein collagen and that produces the hyperelasticity of the skin along with other complications such as fragile blood vessels, dislocations, deformation of the joints, and chronic pain. The only treatment is physiotherapy since it is impossible to decrease all the negative effects it does.
1. Congenital Insensitivity To Pain With Anhidrosis (CIPA)
CIPA is a rare autosomal recessive disorder in the nervous system that blocks any kind of pain or temperature that should be sensed by the individual who has it. It is produced by a genetic mutation that stops the development of the cells in charge of detecting sensitive signals.
People with CIPA don’t have any sort of treatment yet and they should pay special attention to all kinds of injury. They also aren’t able to feel the need to urinate or sweat so they are vulnerable to overheating.