The prevalence of ‘Cutis
Laxa’ is estimated 1 in every 1,000,000 birth.
Cutis Laxa is extremely
rare. As per National Institute of Health, only around 200 families are suffering
from this disorder, worldwide.
Thursday, November 27, 2014
Tuesday, November 25, 2014
Wednesday, November 19, 2014
Cutis Laxa is all about ……
In a one liner Cutis
Laxa is a rare inherited connective tissue disorder, characterized by
inelastic saggy skin, with droopy appearance.
Connective tissue is
the body’s supporting framework of tissue consisting of strands of collagen,
elastic fibers between muscles and around muscle groups, blood vessels and
simple cells. Connective tissue provides stricture and strength to the muscles,
joints, organs and skin.
Tuesday, November 18, 2014
Meet the Little Yuxin ..... (2/2)
The little, Yuxin Xiaoli was born with a loosening
skin. Her tiny face is full of wrinkles. The skin on her cheeks and chins
drooped. She had even more sagging skin in other parts of her body.
Yuxin’s health is deteriorating ¾ she is suffering
from a congenital heart disease, pneumonia and asthma, which recurring frequently
these days.
Photo courtesy: http://niewiarygodne.pl/gid,15060287,img,15060343,kat,1017185,title,Przerazajaca-choroba-Ta-babcia-ma-18-miesiecy,galeriazdjecie.html
Sunday, November 16, 2014
Meet the Little Yuxin ..... (1/2)
Meet Yuxin Xiaoli, a 3 year old girl in China ¾ but wait a minutes
isn’t she looks like 60 ???
What Happened to her ??
Most of you are thinking that she might be
suffering from a premature aging
disorder ¾
Progeria??
Nope ----- not at all !!
It’s the rare skin disorder ¾ Cutis Laxa, which makes
her look like an old woman.
Thursday, November 13, 2014
Monday, November 10, 2014
Meet Zara ..... (2/3)
Zara and her sister Jolene and mum Tracy suffers
from a rare disorder ¾
Cutis Laxa, though it was misdiagnosed
as ‘Lipodystrophy’ earlier, which causes their skin appears saggy but not
stretchy pointing to the premature aging.
Tracey Gibson: 42, and
two daughter Jolene Hardy: 24 and Zara Hartshorn: 16
Cutis Laxa is a rare genetic condition in which deterioration
in the fatty and connective tissues as well as bones under the skin appears as
the extreme premature aging. Some of them reported that their teeth fall out
and have had to rely on collagen injection to combat wrinkles.
In contrast to 'Cutis Laxa', ‘Lipodystrophy’ is an extremely rare
disorder in which fat deposited in the body parts, where it should not be allowed to deposit. With other health complication 'Lipodystrophy' makes a person look and appear older than his/her original age.
Wednesday, November 5, 2014
Meet Zara ..... (1/3)
Meet Zara Hartshorn, a British lady whose rare
genetic condition has made her appear as 60, as if she is in the twilight of
her life ¾
her teeth are falling out and she is on collagen injections for her wrinkles ¾ but Zara is no longer a middle aged woman who
is coping to rejuvenate her youth ¾ she is only in her 16 !!!
Zara with her Birth Certificate
Thursday, October 30, 2014
Benjamin Button Disorder !!!
When I was a child I often put my feet in my dad’s
shoe and start behaving like him ….. I always had a dread of
commanding …… I always wished if I could grow up in the very next morning
I would also be like my father …… I am sure many of us have this kind of
thought at some point of time in childhood ……
But have you guys ever thought what if someone
threats you as mom/granny when you are just in your sweet 16 ???
Found any resemblance with the move 'The
Curious Case of Benjamin Button' played by Brad Pitt
You are right !!!
My next posts will be discussing on the Reverse
Benjamin Button Disorder
Keep Reading J
Tuesday, September 16, 2014
POLH gene cause Xeroderma Pigmentosum (XP)...
POLH gene shows 30+
mutations in the variant type of Xeroderma Pigmentosum (XP-V), which is
characterized by increased sensitivity to UV rays from sunlight like the other
forms of XP. However, XP-V do not associated with neurological abnormalities
such as delayed development and hearing loss.
Most of the mutations in POLH gene prevent the production
of any detectable DNA polymerase eta. As we know without DNA polymerase eta cells
could not effectively replicate damaged DNA. Without DNA replication for damaged
DNA, errors resulting from exposure to UV rays accumulate in the genes which
control cell growth and division. Due to this damage, cell growth become uncontrollably
fast resulting an increased risk of developing skin cancer in the sunlight
exposed areas in the XP-V affected individual.
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