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  • Writer's pictureShruti GOCHHWAL

8 Rare Diseases That Are as Bizarre as They Are Uncommon

There are various conditions and diseases that are not commonly known among the general population. Most may be deadly in nature and some may do no harm to human health. The one thing they have in common is their rareness or bizarre nature.

Here’s a list of some of the world’s rarest and most unheard-of diseases:

#1 Microcephaly

It is one of the rarest conditions that usually occur along with Downs Syndrome and affects newborns, eather immediately after or before birth. Such infants develop a smaller head compared to their normal baby body size.

Researchers believe that microcephaly is developed due to exposure of the pregnant mother to hazardous substances like radiation or chemotherapy. It could also be caused due to some genetic complications during fetus formation.

Such patients suffer from:

  1. Mental retardation

  2. Hyperactivity

  3. Dwarfism

  4. Seizures

  5. Balance problems

  6. Speech and motor problems

#2 Erythropoietic Protoporphyria

This condition is caused due to a mutated gene that disables the body from processing protoporphyrin, a light-sensitive chemical that is formed and developed in the top layers of the skin when it reacts to sources of light.

Due to its absence, when one goes out in the sun without covering up they will experience tingling sensations, itchiness, burns, and develop painful blisters.

blue hand

Bluish gray skin, Credit: flickr

#3 Argyria

This bizarre condition causes your skin color to appear bluish-gray. This pigmentation is due to tiny bits of silver that build up in your tissues. This is usually caused when people consume a dietary supplement that contains colloidal silver.

Unfortunately, this condition is mainly permanent and exposure to sunlight and UV rays will only speed up the process and escalate the symptoms.

#4 Eruptive Xanthomas

This condition causes a sudden appearance of uneven, wart-like, waxy bumps on your skin and most people wrongly assume that it is caused due to some infections. However, they are neither contagious, nor infectious.

They are just mainly fatty deposits of cholesterol which is caused due to very high levels of triglycerides fat in your blood. These warts and bumps can be cleared and treated with medication.


Symptom of morgellons disease. Credit: Wikimedia Commons

#5 Morgellons Disease

It is a rare and poorly understood disease.

Symptoms include:

  1. Biting

  2. Itching

  3. Crawling sensation

  4. Lesions on skin

  5. Memory problems

  6. Moodiness

  7. Concentration problems

Some researchers believe that this condition is linked to psychological or mental health issues which is why doctors suggest therapy alongside treatment.

Rare Diseases in India

1 in 20 Indians suffers from some rare, life-threatening diseases and the majority affected are children. Most of them go undiagnosed.

Pale face

Symptom of thalassemia, credit: needpix

#1 Thalassemia

This condition is a genetic and hereditary blood disorder that affects the production of hemoglobin by reducing it. Hemoglobin is a protein component of red blood cells and is responsible for carrying oxygen from your lungs to deliver it to your cells and tissues.

Thus the reduction in hemoglobin results in the reduction of red blood cells and as a result, your body will not have sufficient oxygen to function properly. This condition is known as anemia.

Symptoms include:

  1. Coloured or dark urine

  2. delayed growth and development

  3. fatigue

  4. pale skin

  5. Face deformities

#2 Pompe disease

This condition is a hereditary disorder that occurs when your body is unable to digest complex sugar to glucose. This is because the body is not capable of producing the protein that initiates this breakdown. As a result, the body is unable to produce energy and ATP due to the shortage of glucose.

Symptoms include muscle weakness and trouble breathing and problems with the liver, heart, and muscles.

Pompe disease can affect different age groups but for convenient diagnosis and treatment, it has been classified into groups: classic infantile, childhood or non-classic infantile, late-onset.

#3 Haemophilia

This is another inherited disorder and mainly occurs in males. Haemophilia directly affects the blood’s ability to clot properly. As a result, a person will experience internal and external bleeding even after a small injury or damage this is known as prolonged bleeding.

Other symptoms include:

  1. Easily bruised skin

  2. pain and stiffness around elbows and knees

  3. Internal bleeding causes tinted urine or stool

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