Epidermolysis Bullosa also known as E.B. is generally an inherited connective tissue disease. This disease is evident at birth or soon there after. It causes large fluid filled blisters, in the skin and mucosal membranes. Chaffing or even increase in room temperature may cause these blisters to form. E.B. affects an estimated 50 in 1 million live births. The disease has been known to affect every racial and ethnic group and is found in both males and females all over the world. The disease has
Jennifer Bates Epidermolysis Bullosa University of Southern Indiana Epidermolysis Bullosa Epidermolysis Bullosa is an umbrella term for a group of skin disorders that involve fragile skin and mucosa that blister for no apparent reason. These skin disorders are passed down genetically (Sarkar, Bansal, Garg, 2011). Epidermolysis is a rare disease but there have been many efforts of research to help aid in the prevention and management of this disease. Clinical Manifestations
Dystrophic Epidermolysis Bullosa Introduction Dystrophic epidermolysis bullosa is one of the major forms of Epidermolysis Bullosa. In minor cases, blistering affects the hands, feet, knees, and elbows. Severe cases involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes in the type VII collagen gene that may be inherited as a dominant or recessive subtype. Some patients might even need nutritional supplements, occupational
the most common form and also the least serious, but Junctional Epidermolysis Bullosa and Dystrophic Epidermolysis Bullosa affect the patient far more severely (Stanford School of Medicine). Doctors form the diagnosis based upon the location within the skin that the blisters form, in relation to the deepest layer of the skin (dermis) and the most superficial layer (epidermis) (Gale). The most common symptoms of Epidermolysis Bullosa include the following: blisters on the skin that commonly first
Blisters, Pediatric Introduction A blister is a raised bubble of skin filled with liquid. Blisters often develop in an area of the skin that repeatedly rubs or presses against another surface (friction blister). Friction blisters can occur on any part of the body but usually develop on the hands or feet. Long-term pressure on the same area of the skin can also lead to areas of hardened skin (calluses). What are the causes? A blister can be caused by: • An injury. • A burn. • An allergic reaction
filaments [120]. Mutations in laminin 332 are linked to a condition that causes skin fragility and severe blistering, which is known as junctional epidermolysis bullosa [141-143]. Moreover, the absence of laminin 332 expression considerably disrupts the epidermal adhesion, as seen in patients having the lethal disease known as Herlitz junctional epidermolysis bullosa [107, 141]. Laminin 332 can bind via the G domain to α6β4 and α3β1 integrins [144, 145]. It also has binding sites along its β-chain for
Genetic engineering often has a negative meaning associated with it, such as science fiction and post-apocalyptic scenarios. For some, the thought brings forth the images of gruesome and unrealistic mutations. Genetic engineering is often linked with poisoning food with dangerous chemicals, in result, causing a natural dislike for what they think are contaminated and fake foods. Genetic modification is actually not as harmful as it seems. It is simply the process of altering its DNA using biotechnology
Proteins are essential to cells. They are found in eukaryotic cells. They help cells maintain their shape. They are essential in humans’ immune systems and all over the body. Amino acids are what go into proteins. There are 20 different types of Amino acids. Nine of them are essential and eleven are non-essential. Peoples body mass is made up with 15% of proteins. Each protein has a certain “job.” Hydrogen bonds, Ionic bonds or covalent bonds are formed in a protein molecule. Genes are DNA. DNA stands
example, women terminate pregnancies in the womb for neurodegenerative diseases, malformations or defects, and effects that wouldn’t classify as a normal fetus. In Belgium, they discuss active euthanasia for fetuses diagnosed with severe epidermolysis bullosa to Down syndrome or spinal bifida (Hanson, 2015). Active euthanasia is agreed by physicians and both parents before performed. The Groningen protocol was created for children and infants with a hopeless prognosis and will encounter unbearable
and a hickey that wasn’t going away anytime soon. My parents were furious. Usually I would get back at midnight, but Dionysos had slipped something in my drink. They had enough on their hands with Papilionem, my sister. Papilionem, or P, has Epidermolysis Bullosa. At first we were scared for her, but somehow she turned into my hero. I try to be as strong, courageous, and adventurous as her everyday. We’re Heaven in hiding. I always felt like I never belonged in Aureum. Everyone in our house was so different