Sentences with phrase «epodermolysis bullosa»

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.

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.

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.

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.

These technical developments will allow also the establishment of pathological modelling of the epidermolysis bullosa disorders.

Albinism, Arthrogryposis Renal Dysfunction Cholestasis Syndrome, Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract, Bare Lymphocyte Syndrome 2, Breast Cancer, Cholestasis, Progressive Familial Intrahepatic 1, Cholestasis, Progressive Familial Intrahepatic 2, Cholestasis, Progressive Familial Intrahepatic 3, Congenital Chloride Diarrhea, Congenital Muscular Dystrophy, Congenital Nephrotic Syndrome Finnish Type, Down syndrome, Duchenne muscular dystrophy, Epidermolysis bullosa, Hypoparathyroidism retardation dysmorphism syndrome, Joubert syndrome, Muscular dystrophy, Neurogenetic and neurometabolic disorders, Osteogenesis imperfecta, Sickle cell anemia, Spinal muscular atrophy, Thalassemia, Adolescent nephronophthisis, Infantile nephronophthisis

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: an abnormal looseness to the skin characterized by large, deep, blister - like lesions.