The child suffered from junctional
epidermolysis bullosa (JEB), a rare skin condition affecting fewer than 1 in 1 million people.
When Christiano made the switch to hair research from skin blisters, some of her colleagues in the epidermolysis
bullosa field wondered if her research had turned trivial.
Epidermal stem cells known as holoclones (shown in pink) were responsible for regenerating the young epidermolysis
bullosa patient's skin, while other cell types disappeared over time.
These technical developments will allow also the establishment of pathological modelling of the epidermolysis
bullosa disorders.
Dystrophic
epodermolysis bullosa, or DEB, is an inherited skin fragility disorder characterized by skin blistering, abnormal wound healing and excessive scarring, which often leads to aggressive skin cancer.
Epidermolysis bullosa, found in the Central Asian Shepherd dog breed, occurs also in humans due to an identical gene found in both canines and humans.
In 2015, a boy with a rare genetic skin condition, called junctional
epidermolysis bullosa, had lost most of his skin and was close to death.
Jonathan Pitre, 17, was nicknamed» «Butterfly Boy» and developed a close relationship with the team after sharing his battle with epidermolysis
bullosa.
He had one of the most painful diseases known to medicine, epidermolysis
bullosa (EB), but was defiantly happy.
Pathological tests conducted by the Finnish Food Safety Authority Evira confirmed the diagnosis as epidermolysis
bullosa.
Researchers at the University of Helsinki have identified a novel gene defect that causes a hereditary blistering disorder of the skin, epidermolysis
bullosa, in dogs.
A novel gene defect that causes a hereditary blistering disorder of the skin, epidermolysis
bullosa, was identified in dogs.
This finding helped specify the diagnosis as the dystrophic form of the recessive blistering disorder of the skin known as epidermolysis
bullosa.
After she earned her Ph.D. from Rutgers University in 1991, she began an emotionally wrenching postdoctoral fellowship: hunting down the genetic basis of epidermolysis
bullosa, a childhood disease that causes disfiguring and even fatal blisters.
But over the next five years she isolated one gene, then another, and another, until more than 50 mutations on several genes associated with epidermolysis
bullosa had been nailed.
Fragile skin that blisters easily: 90 percent of the patients that suffer from the skin condition recessive dystrophic epidermolysis
bullosa (RDEB) develop rapidly progressing cutaneous squamous cell carcinomas, a type of skin cancer, by the age of 55.
The treatment — a whole - body graft of genetically modified stem cells — is the most ambitious attempt yet to treat a severe form of epidermolysis
bullosa (EB), an often - fatal group of conditions that cause skin to blister and tear off at the slightest touch.
Patients with a rare genetic disease known as junctional epidermolysis
bullosa (JEB) suffer from just this painful phenomenon.
He has junctional epidermolysis
bullosa (JEB).
Genetically altered skin has saved a child from dying of a rare disease called junctional epidermolysis
bullosa.
Epidermolysis
bullosa: an abnormal looseness to the skin characterized by large, deep, blister - like lesions.
The main differential diagnosis, especially where the muscle component is mild, is epidermolysis
bullosa.