Epidermolysis Bullosa Simplex Dowling-Meara

There are three main types of EB. Each is caused by a different mutation. The most common type of EB is Epidermolysis Bullosa simplex (EBS). This variation is unlike the other two in the fact that it is autosomal dominant. The gene that is mutated is called keratin 14 or KRT14 for short. This gene in particular codes for keratins, a type of protein that forms skin, hair and nails. There are over 60 mutations that have been found in people living with EBS from this gene alone. Keratin 14 is located on chromosome 17.

Analysis – An analysis was carried to understand if there is a relationship between the

The findings of this study may further contribute to the body of knowledge which may serve as bases for further research.

This research is supported by materials from Dr. Sommerhage in affiliation with Keiser University. Special thanks to Mr. Kenney from his help in preparation for the scientific article.

studies (such as Bifulco, Cobb & Bell, 2009). As a result, the present study fills a

Epidermolysis bullosa first presents itself between birth and early childhood and affects both genders and every race and ethnicity (Mayo Clinic Staff, 2014). When important structural proteins are faulty or not present within the skin of a patient, the skin loses its strength and stability. More specifically, EB Simplex, one of the major subtypes of EB, lacks proper functioning of Keratins 5, 14 and/or a structural protein called plectin in the epidermis (Debra). Since keratin proteins provide strength and resiliency to the outer layer of skin, and plectin helps make up the cell’s cytoskeleton, not having properly functioning proteins created an unstable epidermal layer. As a result, fluid-like blisters form in the top most layer of skin

Childhood is a time for frolicking and having fun. A time to explore, to discover, to interact with other children, a time to be carefree, but imagine a child who will never know what is like to run and jump, to play games with others and not worry about anything, because even the slightest physical contact will damage his or her skin. Many children are born with many different diseases. One of the rarest and difficult diseases is Epidermolysis Bullosa, a rare skin disease. Even though this is a rare disease, there is a tremendous amount of knowledge to it and many researchers looking for a cure. Epidermolysis is in a group of inherited diseases that are characterized by blistering lesions on the skin’s surface and in the mucous membranes.

Scleroderma literally means “hard skin.” More women than men have the disease. The case can be mild or severe and doctors diagnose it using the patient’s medical history, skin biopsy, lab tests, and a physical exam. Scleroderma is a disease in which the body’s immune system works against itself. With scleroderma the skin sees it’s own tissues as foreign antibodies and actively tries to destroy it, making collagen like it does when there is a present injury. Instead of stopping to produce the collagen after the “injury” is helped, more and more is produced resulting in extra collagen in the cells that can hinder body function. It makes your skin hard or thick and can cause swelling of the joints. The cause is unknown because you are not able to catch it from other people and it is not

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 been seen in a wide variety of forms from mild to lethal form involving some organs. Epidermolysis Bullosa is the result of a mutation in the keratin or collagen gene. There are three layers of skin epidermis, dermis and the subcutaneous

Epidermolysis Bullosa (EB) is classified as a category of bullous, or blistering, disorders that affect a person is they undergo any type of strain to the body. It is a rare inherited disease that affects the keratin in the cells which allow them to have rigidity and strength to protect the body from the environment (Columbe, P.A. et. al). A lack, or mutation, of keratin within the cells causes the epidermis to be susceptible to complete destruction or damage to the cells with even minor damage placed on them. The degree of blistering caused by trauma to the skin can vary from person to person due to difference in sensitivity, but the main cause of blistering to erupt is due to mechanical strain placed on the skin. (Columbe, P.A. et. al) The

Have you ever felt a butterfly wings? Do you recall how fragile they were? Now imagine your very own skin being that fragile. This is exactly the case in 7 year - old Hassan’s life. Hassan was diagnosed with a rare genetic disease, at a week old, called epidermolysis bullosa. Epidermolysis bullosa is an incurable disease that causes blisters and erosion of the skin. This disease has affected over 500,000 people worldwide, while 40% of patients die before adolescence. Hassan luckily, was diagnosed and treated in Germany. In 2015, his condition worsened and he wasn’t expected to survive due to sepsis and 60% of his epidermis gone. All hope was lost until his doctors reached out to Dr. Michele De Luca. Dr. Michele De Luca was

What impact does Epidermolysis Bullosa have on the lives of the people it affects? It impacts on their lives because of the effect it has on the body’s ability to function properly, mainly because of blisters forming everywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve disfiguring of body parts such as fingers and toes. Many individuals are judged based on their appearance and are severely criticized by use of name calling and such name is referred to as butterfly skin. However, if people are educated about the disease and how it affects individuals it can help bring forth awareness.

Epidermolysis Bullosa is a group of extremely rare skin disease that can cause the skin to become fragile and form blisters on top of the skin. The disease commonly known as EB usually shows up as a child. The human body is This disease comes in many different types like epidermolysis bullosa simplex (EBS) causes blisters to form on the outer layer of the skin, dystrophic epidermolysis bullosa(DEB) allows blisters to form on both the outer and inner parts of the skin, and junctional epidermolysis bullosa (JEB) which can cause “blisters to form where the outer and inner layers meet”. Each type contains its own sets of problems and treatments.

Epidermolysis Bullosa, otherwise called butterfly ailment, is a hereditary skin condition. The skin of patients with this malady is as delicate as the wings of a butterfly. It rankles effectively because of minor harm or grinding, for example, rubbing or scratching. Besides, the patients create endless injuries that are not recuperating and their fingers and toes wire, for instance. The condition is created by a change of the quality COL7A1, which contains the outline for the protein collagen VII. This protein ties the epidermis and the dermis, two layers of the skin, together. In RDEB understanding, collagen VII is totally truant and, in this way, the skin gets to be delicate.

Despite the fact, that there are some limitations, mostly connected with the size of the sample used in this research, the study still has both theoretical and practical value. The results of it also study contribute to existing gap in the academic literature.