Progeria is a rare genetic condition where aging begins in childhood, causing abnormal physical development. Symptoms include premature wrinkling and loss of hair and life expectancy is usually 13 years. Progeria is not inherited in most cases and has no cure.
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.
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