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Top 10 Rarest 
Diseases in the World
10. Progeria 
If you have seen the movie Paa, you must 
be familiar about this disease. Affecting one 
in about 8 million children, Progeria is a 
genetic condition where aging of the 
patient begins in childhood. The usual life 
span of the people affected by this disease 
is 13 years while few others have been able 
to survive till their early twenties. Progeria 
is not inherited in most of the cases and is 
an incurable disease though various cures 
like anti cancer drugs and hormone 
treatment have been tried by 
doctors. Victims of this fatal disease have a 
appearance resembling premature aging 
leading to abnormal development of body 
parts like bulging eyes, abnormally small 
face and wrinkled skin. The hair starts 
falling at the age of two. In 90% of the 
cases, the victim dies due to a heart attack 
or stroke.
9. Water Allergy 
• Also known as Aquagenic Urticaria, 
this disease is extremely rare and has 
affected only 30 people till date. 
Water Allergy is a disease confirmed 
by Medical Review Board where 
sufferers are allergic to water. Mostly 
it occurs in the latter part of the life 
and is often caused due to hormonal 
imbalance brought about by giving 
birth. In a case in UK, a 21 year old 
female developed this allergy where 
she could not drink water or touch 
water because her skin develops a 
burning rash. She could only 
consume diet coke, bath for 10 
seconds in a week and not get caught 
in the rain. This is basically a 
hypersensitivity to the ions present in 
non-distilled water.
8. Laughing Death or Kuru 
• Also known as Laughing Death, Kuru is 
so rare that it was found only amongst 
the tribal Fore people of New Guinea. 
The main symptom of the disease is 
sudden burst of maniacal laughter 
which ultimately leads to death with a 
hole in the brain. The disease was a 
result of cannibalism, a ritualistic 
practice where tissues of the brain of 
the deceased were cooked and 
consumed. The sufferers are usually 
not able to eat and stand, begin to 
sway and stumble, lose power of 
speech and ultimately die in a 
comatose state. However, in most of 
the parts, Kuru has disappeared 
because of government intervention 
to put an end to cannibalism.
7. Porphyria 
• Weird but true that 18th century 
English King George III suffered from 
this infamous disease. Porphyria leads 
to purple urine and feces which is 
caused due to complications in the 
production of a protein forming a vital 
part of the red blood cells. Affecting 
skin and the nervous system, common 
symptoms of this disease are 
vomiting, constipation, abdominal 
pain, stomach disorder, increasing 
sensitivity to sun, swelling, itching and 
nausea. In few cases, the hair growth 
of forehead increases. Toxins after 
exposure to sunlight due to deficiency 
of heme protein causes coloring of 
skin areas like reddish teeth and nails, 
dark urine etc. Some of the known 
people suffered from Porphyria 
are Mary Queen of Scots, King 
Nebuchadnezzar of Babylon and 
Vincent Van Gogh.
6. Fatal familial insomnia: No sleep 
• 
The nightmare of FFI is never to have 
a nightmare or a dream. It starts with 
a mysterious sleeplessness starting 
from middle age and rapidly develops 
as the person grows old. For years, 
the members of an Italian family 
suffering from this disorder have 
been dying as they were unable to 
sleep. It is generally resultant of a 
genetic mutation which leads to a 
prion disease, related in nature to 
diseases like Mad Cow, Kuru and 
even Alzheimer’s. Till date this 
disorder has only been found only in 
40 families worldwide. FFI is a rare 
genetic sleep disorder. The main 
symptom includes the inability to 
sleep, high pulse, blood pressure, 
excessive sweating and sometimes 
loss of coordination and motor 
abilities.
5. Alien Hand Syndrome 
• Alien hand syndrome is a rare disorder in 
which neurologically one hand functions 
involuntarily. The victim is completely 
unaware of its actions and doings. The 
affected person hand seems to take a mind of 
its own. They are not in the control of the 
sufferer, hands does not exist for them. The 
terrible symptoms include uncontrolled 
reaching and grasping for things, touching the 
face or tearing of clothes. This disorder 
occurs after conditions like brain surgery, 
infection, stroke, tumor and specific 
degenerative brain conditions. AHS is the 
condition in which the affected limb does not 
have any purpose and are not goal-oriented. 
Patients keep all sense of feeling in the hand, 
but they still have the feelings of 
disassociation. They may exhibit strange 
behaviors like talking to the hand or claiming 
demonic possession. Extreme cases involve 
involuntarily stuffing food into the mouth and 
preventing hand from simple daily tasks. 
Since 1909 there have been only 40 to 50 
cases.
4. Argyria: Blue Skin 
• The Blue skin disorder is a real life 
smurf disease. The Fugate family was 
suffering from this disease for nearly 
last 200 years. The members of the 
family suffer from inherited disorder 
which gives their skin a shocking blue 
or purple color. Medically known as 
methemoglobinemia, it is an outcome 
of a blood disorder that leads to 
excessive amount hemoglobin. 
Patients have blue skin, purple lips 
and somewhat brown blood due to 
insufficient levels of oxygen in the 
body. High levels of met hemoglobin 
can result into heart disorders or even 
can lead to death. This disorder is 
permanent. The main symptoms 
include shortness of breath, 
headache, fatigue, dizziness, and 
mental changes.
3. Hereditary angioedema (HAE) 
• Hereditary angioedema is an inherited 
disorder. The symptoms include recurrent 
episodes of swellings. The swelling is due 
to accumulation of fluids outside the 
blood vessels, jamming the normal flow of 
either blood or fluid which causes rapid 
swelling. Swelling can be seen in the 
various parts of the body like hands, feet, 
limbs, face, intestinal tract and airway. The 
symptoms does not show any sign of 
itching. This is a rare case which affects 
only one among 50,000 people 
worldwide. These swelling make daily 
activities hard to perform for the patient. 
Swelling in the gastrointestinal leads to 
cramping, swelling in airway lead to 
obstruction, patient suffers very serious 
complication. The disease is due to 
deficiency or inappropriate functioning of 
certain proteins in the body system which 
maintain the normal flow of fluids or 
blood through very small blood vessels.
2. Hypertrichosis: Werewolf Syndrome 
• Also known as Werewolf Syndrome, 
Hypertrichosis is medical hormonal 
imbalance which triggers an unusual 
amount of hair growth on the body. 
It can occur in male or female 
anyone and can be hereditary in 
nature. The disorder causes 
abnormal growth of hair in body 
areas where hair does not grow 
normally. It can be over the entire 
body, or in one or more areas. It’s 
not innate. Some are born with it 
while some develop it later in their 
life. This rare case was also seen in 
India in 2008, where an 11 year old 
boy was suffering from excessive 
hair on his face and body. The family 
took various measures from 
homeopathy to traditional Ayurvedic 
remedies even they took help of 
laser surgery but could not find a 
permanent cure.
1. Human Pappiloma Virus: The Tree 
Man 
• Human Pappiloma Virus (HPV) is a 
skin disorder which is lifelong. It is a 
rare disease which is hereditary in 
nature. HPV is extremely rare and only 
195 cases have been documented till 
now all over the world. It is due to 
some immunity deficiency which 
results into a typical skin disorder, 
mostly severe. The immunodeficiency 
allows this virus present on our skin to 
develop themselves on the person’s 
skin. They are present all over the 
body, but sometimes it can be 
concentrated to the parts of the body 
which are exposed to the sun, like 
face, legs and hands. Yet no significant 
treatment has not been found, 
physicians have proposed treatments 
but none of them is working. 
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top 10 rarest diseases

  • 1. Top 10 Rarest Diseases in the World
  • 2. 10. Progeria If you have seen the movie Paa, you must be familiar about this disease. Affecting one in about 8 million children, Progeria is a genetic condition where aging of the patient begins in childhood. The usual life span of the people affected by this disease is 13 years while few others have been able to survive till their early twenties. Progeria is not inherited in most of the cases and is an incurable disease though various cures like anti cancer drugs and hormone treatment have been tried by doctors. Victims of this fatal disease have a appearance resembling premature aging leading to abnormal development of body parts like bulging eyes, abnormally small face and wrinkled skin. The hair starts falling at the age of two. In 90% of the cases, the victim dies due to a heart attack or stroke.
  • 3. 9. Water Allergy • Also known as Aquagenic Urticaria, this disease is extremely rare and has affected only 30 people till date. Water Allergy is a disease confirmed by Medical Review Board where sufferers are allergic to water. Mostly it occurs in the latter part of the life and is often caused due to hormonal imbalance brought about by giving birth. In a case in UK, a 21 year old female developed this allergy where she could not drink water or touch water because her skin develops a burning rash. She could only consume diet coke, bath for 10 seconds in a week and not get caught in the rain. This is basically a hypersensitivity to the ions present in non-distilled water.
  • 4. 8. Laughing Death or Kuru • Also known as Laughing Death, Kuru is so rare that it was found only amongst the tribal Fore people of New Guinea. The main symptom of the disease is sudden burst of maniacal laughter which ultimately leads to death with a hole in the brain. The disease was a result of cannibalism, a ritualistic practice where tissues of the brain of the deceased were cooked and consumed. The sufferers are usually not able to eat and stand, begin to sway and stumble, lose power of speech and ultimately die in a comatose state. However, in most of the parts, Kuru has disappeared because of government intervention to put an end to cannibalism.
  • 5. 7. Porphyria • Weird but true that 18th century English King George III suffered from this infamous disease. Porphyria leads to purple urine and feces which is caused due to complications in the production of a protein forming a vital part of the red blood cells. Affecting skin and the nervous system, common symptoms of this disease are vomiting, constipation, abdominal pain, stomach disorder, increasing sensitivity to sun, swelling, itching and nausea. In few cases, the hair growth of forehead increases. Toxins after exposure to sunlight due to deficiency of heme protein causes coloring of skin areas like reddish teeth and nails, dark urine etc. Some of the known people suffered from Porphyria are Mary Queen of Scots, King Nebuchadnezzar of Babylon and Vincent Van Gogh.
  • 6. 6. Fatal familial insomnia: No sleep • The nightmare of FFI is never to have a nightmare or a dream. It starts with a mysterious sleeplessness starting from middle age and rapidly develops as the person grows old. For years, the members of an Italian family suffering from this disorder have been dying as they were unable to sleep. It is generally resultant of a genetic mutation which leads to a prion disease, related in nature to diseases like Mad Cow, Kuru and even Alzheimer’s. Till date this disorder has only been found only in 40 families worldwide. FFI is a rare genetic sleep disorder. The main symptom includes the inability to sleep, high pulse, blood pressure, excessive sweating and sometimes loss of coordination and motor abilities.
  • 7. 5. Alien Hand Syndrome • Alien hand syndrome is a rare disorder in which neurologically one hand functions involuntarily. The victim is completely unaware of its actions and doings. The affected person hand seems to take a mind of its own. They are not in the control of the sufferer, hands does not exist for them. The terrible symptoms include uncontrolled reaching and grasping for things, touching the face or tearing of clothes. This disorder occurs after conditions like brain surgery, infection, stroke, tumor and specific degenerative brain conditions. AHS is the condition in which the affected limb does not have any purpose and are not goal-oriented. Patients keep all sense of feeling in the hand, but they still have the feelings of disassociation. They may exhibit strange behaviors like talking to the hand or claiming demonic possession. Extreme cases involve involuntarily stuffing food into the mouth and preventing hand from simple daily tasks. Since 1909 there have been only 40 to 50 cases.
  • 8. 4. Argyria: Blue Skin • The Blue skin disorder is a real life smurf disease. The Fugate family was suffering from this disease for nearly last 200 years. The members of the family suffer from inherited disorder which gives their skin a shocking blue or purple color. Medically known as methemoglobinemia, it is an outcome of a blood disorder that leads to excessive amount hemoglobin. Patients have blue skin, purple lips and somewhat brown blood due to insufficient levels of oxygen in the body. High levels of met hemoglobin can result into heart disorders or even can lead to death. This disorder is permanent. The main symptoms include shortness of breath, headache, fatigue, dizziness, and mental changes.
  • 9. 3. Hereditary angioedema (HAE) • Hereditary angioedema is an inherited disorder. The symptoms include recurrent episodes of swellings. The swelling is due to accumulation of fluids outside the blood vessels, jamming the normal flow of either blood or fluid which causes rapid swelling. Swelling can be seen in the various parts of the body like hands, feet, limbs, face, intestinal tract and airway. The symptoms does not show any sign of itching. This is a rare case which affects only one among 50,000 people worldwide. These swelling make daily activities hard to perform for the patient. Swelling in the gastrointestinal leads to cramping, swelling in airway lead to obstruction, patient suffers very serious complication. The disease is due to deficiency or inappropriate functioning of certain proteins in the body system which maintain the normal flow of fluids or blood through very small blood vessels.
  • 10. 2. Hypertrichosis: Werewolf Syndrome • Also known as Werewolf Syndrome, Hypertrichosis is medical hormonal imbalance which triggers an unusual amount of hair growth on the body. It can occur in male or female anyone and can be hereditary in nature. The disorder causes abnormal growth of hair in body areas where hair does not grow normally. It can be over the entire body, or in one or more areas. It’s not innate. Some are born with it while some develop it later in their life. This rare case was also seen in India in 2008, where an 11 year old boy was suffering from excessive hair on his face and body. The family took various measures from homeopathy to traditional Ayurvedic remedies even they took help of laser surgery but could not find a permanent cure.
  • 11. 1. Human Pappiloma Virus: The Tree Man • Human Pappiloma Virus (HPV) is a skin disorder which is lifelong. It is a rare disease which is hereditary in nature. HPV is extremely rare and only 195 cases have been documented till now all over the world. It is due to some immunity deficiency which results into a typical skin disorder, mostly severe. The immunodeficiency allows this virus present on our skin to develop themselves on the person’s skin. They are present all over the body, but sometimes it can be concentrated to the parts of the body which are exposed to the sun, like face, legs and hands. Yet no significant treatment has not been found, physicians have proposed treatments but none of them is working. • Related posts: