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Showing posts with the label genetics

Abul Bajandar the Tree-man

He isn't really turning into tree, but the reality is almost as scary. The official name for this condition is Epidermodysplasia verruciformis, but it is  more commonly known as tree man syndrome due to the bark like appearance of the lesions it causes. For years, 28-year-old Abul Bajandar, from  Bangaldesh , was covered with what looked like bark. His hands and feet grew foot-long, gnarled "roots," skin lesions that left him unable to feed himself, move around, work, or wear standard clothing. A few years ago, surgery finally changed his life. But after  more than 25 invasive surgeries  (since 2016) to remove the bark-like skin growths sprouting from his hands and feet, Bajandar, sometimes referred to as the “tree man,” is back where he started. What is epidermodysplasia verruciformis? Epidermodysplasia verruciformis  ( EV ), also known as  treeman syndrome , is an extremely  rare   autosomal recessive   hereditary sk...

A Brave Heart: The Lizzie Velasquez Story

Eating whatever you want without gaining weight may sound like a dream, But it’s a daily battle for Lizzie velasquez . Elizabeth Anne Velásquez  ( born March 13, 1989) is an American  motivational speaker , author, and  YouTuber . She was born with an extremely  rare congenital disease  called  Marfanoid–progeroid–lipodystrophy syndrome  that, among other  symptoms , prevents her from accumulating  body fat  and gaining weight. Her conditions resulted in  bullying  during her childhood. During her  teenage  years, she faced cyber bullying, which ultimately inspired her to take up motivational speaking. Velásquez's condition is a very rare, previously undiagnosed and non- terminal  genetic disorder.Her condition bears similarities to many other conditions, especially  progeria . Medical researchers at the  University of Texas Southwestern Medical Center  previously speculated that it m...

"Prune head" / Brainy scalp

A man with a rare condition made the clinicians in Brazil scratch their heads after the skin on his scalp began to loosen and form the shape of a brain. His ailment has been identified as Cutis Verticis Gyrata,     and is a benign and essentially aesthetic condition. The soft folds that can count up to ten, typically affect the central and back regions of the head, but sometimes cover the entire scalp. The cause of the deformation remains a mystery in most cases. The condition is then classified as “primary CVG”. While it can be present on its own, the condition is often associated with other abnormalities, such as mental deficiency, epilepsy, schizophrenia, seizures, deafness and blindness. This patient has no symptoms of psychiatric or neurological disorders, but is intellectually impaired. “Secondary CVG” is caused by a disease, unbalanced hormones or drugs that lead to changes in scalp structure. For example acromegaly, a syndrome that results when the anterior ...

The curious case of Progeria

This is what a person looks like when they age 5 times faster than normal; the boy in this photo is only a child. The appearance of people with progeria can be described as small, wrinkled, and hairless with a frail, weak body and large head. Studies have shown that a person with progeria will have the body in a similar condition to that of an 80 year old by the time they are 15! People born with progeria rarely live past their early 20’s as their internal organs cease to function. Scarily, the condition is caused by a random genetic mutation, meaning anyone could potentially have a child with the affliction; fortunately there are only known cases in the world right now, so the chances are pretty slim. Researchers are hopeful that by understanding this condition they can unlock the secrets of the aging process. Progeria was first described in 1886 by  Jonathan Hutchinson . It was also described independently in 1897 by  Hastings Gilford .T he condition was later named ...