Epidermolysis bullosa

Epidermolysis Bullosa (EB) Epidermolysis Bullosa is an illness that causes the skin to be fragile, and it is really hard to cure. There is no actual cure for this type of disease, but there are very limited ways to try to make people live through this disease. This disease shows up at an early age and or becomes worst as they get older. Not many people especially younger ones survive from disease. The symptoms of this illness are very hard to ignore and are very painful as well. In younger babies, the symptoms are a little bit different, they usually start with having difficulty breathing and swallowing. This disease is so rare that they have not found a cure for it. It’s so devastating that if the person survives with this disease, they live in a really hard condition. “Epidermolysis bullosa” (EB) “Is a group of rare inherited skin diseases that are characterized by the development of blisters following minimal pressure to…

In an ideal scenario, the cure for epidermolysis bullosa should be able to replace the defective genes responsible. This should in turn restore proper protein function, so that the structural integrity of the skin can be restored. Ideally, the treatment should have cell, protein and gene therapy. Due to the fact that this condition is genetic, there is no way of preventing it but there are a few things one can do to be alert and informed of the situation. As early as 8 or 10 weeks of pregnancy,…

Epidermolysis bullosa can be a result of a mutation in one of ten genes (Varkie; et al., 2006). The most common mutations of epidermolysis bullosa simplex are associated with the K5 and K14 types of keratin. The K5 and K14 types of keratin are associated with very important intermediate filament proteins. When a mutation is present here, the basal keratinocytes become fragile and eventually rupture when acted upon mechanically. The K14 and K5 mutations are associated with epidermolysis simplex,…

Epidermolysis Bullosa Acquisita: The Rare, Acquired, Chronic Disease of Blister Formation Epidermolysis Bullosa Acquisita (EBA) is a rare, acquired, autoimmune disease that produces the formation of blisters on the skin after minor trauma (“Epidermolysis Bullosa Clinic”, 2015). Due to small rubs and strains, blisters are commonly seen on the skin. EBA does not only affect the skin, but it can also affect the eyes, nails, mouth, esophagus, and lungs. (Prabhu, Ramesh, Rekka, Swathi, 2011). EBA…

Epidermolysis Bullosa (EB) is a group of inherited blistering disorders. Dystrophic Epidermolysis Bullosa (DEB) is the most severe of EB disorders. DEB causes the skin to become very fragile and blister easily. This potentially life-threatening disease is found in infants and newborns post-child birth. DEB is frequent in an estimated 6.5 million live births in the United States. Sadly, this disease is incurable and prone to cause those infected to live short-lived lives. In this research paper I…

It’s terrifying that there are many diseases in the world that makes its patient suffer too much. As an average Joe, I am only aware of those common illnesses like flus, cancers, tumors, and others. However, there are more illnesses out there that could make anyone feel weak. There are sicknesses that could make even the hardest and the strongest person kneel down with pain. Such disease is the Epidermolysis Bullosa. I bet that this you never heard of disease yet. Only 9 per 1 million people…

Amicus Therapeutics is a biopharmaceutical company based in Cranbury, New Jersey. The company’s focus is on finding advanced therapies and treatments for a broad range of human genetic diseases. These diseases, known as orphan diseases, typically affect fewer than 200,000 people nationwide. Currently the company’s main concentration is on treatments for Lysosomal Storage Disorders such as Fabry disease and Pompe disease. Amicus Therapeutics has directed their development on the…

action Skin is a multilayered organ with the ability to protect the organ¬ism against external aggressions. The skin consists of three main layers including epidermis, dermis and subcutis that are responsible for its high turnover capacity in repairing different injuries. Similar to other tissues, the stem cells existed in skin tissue play an important role in regulating the balance between cell loss and cell division [22, 23]. siRNA therapeutics are potent alternative for skin regeneration due…

1. List one or two sentences describing a case including the Health Condition; use a case from someone with whom you are familiar a. Hanna is a 17-year-old living with Epidermolysis Bullosa (EB), a disease, diagnosed at birth, that destroys the connective tissue of the skin. This disease results in extreme blisters and wounds on the skin, deformity of the finger and toes, dental and oral problems, narrowed esophagus, and other internal blistering, all of which worsen drastically with age. 2.…

Emotive and beguiling, In Crystal Skin beautifully depicts what a day is like for a young girl living with a rare skin disease. At only eleven years old, Maria Alejandra is as youthful, playful and imaginative as her peers. But, she deals with something that has gifted her wisdom most children her age don’t have. Maria suffers from Epidermolysis Bullosa (EB) which is a group of connective tissue diseases that cause blisters and tears when trauma or friction occurs to the skin. EB causes the…