Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Epidermolysis bullosa simplex
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 therapy or surgery depending on the severity of their condition. The article addresses the current standards of managing chronic wounds in DEB as well as developing therapies that may possibly lead to the ability to cure this heritable skin disease.
Context
In DEB, the constant care of multiple wounds at different healing stages can be complicated. Blisters occur after minor friction or stress and can spread rapidly. That’s why blisters should be cut, drained, and covered to prevent
…show more content…
Dystrophic Epidermolysis Bullosa is one of the major forms of EB and can be inherited in an autosomal recessive or dominant pattern. The recessive DEB variants tend to be more severe clinically. The understanding of the pathophysiology of Epidermolysis bullosa has increased and significant advances have been made toward treating and preventing wounds. EB is very complicated so it is unlikely a single treatment will reverse the clinical phenotype. New pharmacotherapies are being investigated to treat and prevent some of the effects of EB and have shown rapid advances in the arena of regenerative medicine. Several of these advances are being utilized in the clinical setting today but there are so few RDEB patients that clinical trials aren’t able to confirm the safety and effectiveness of these
Arch Dermatol. 2007;143(1):124–125. Puchenkova, S. G. (1996). "
There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
There are approximately six types of EDS that have been distinguished but other types exist that are very uncommon. Classical, Hypermobile, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. Classical and Hypermobile make up over 90% of all reported cases of EDS. With the Classical type of EDS a person would have hyperextensible (stretchy) skin with widened atrophic scars and joint hypermobility. The skin is smooth and velvety with tissue fragility and easy brusability. Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypemobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.).
...e progression. In DMD the muscle fibres are continuously damaged when the muscles contract. This causes inflammation which further damages the muscles leading to muscle wasting and the accumulation of scar tissue (‘fibrosis’). Drugs are being researched that could improve the ability of the body to repair damaged muscle, suppress inflammation and inhibit scar tissue formation.
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
may last one to three weeks. In many cases new clusters of blisters appear as
Degloving occurs when excess skin has been drawn up into the clamp and then amputated.
...re out how get only one gene in the right cell, how to keep the gene from impairing any other functions and how to get the gene to produce the right amount of protein. Some researchers are trying a different approach; that of myoblast transfer therapy. This school of thought attempts to fuse healthy, immature muscle cells with dystrophic cells to make hybrid muscles that function normally. Unfortunately, initial tests have not fared very well because the injected myoblasts do not seem to travel very far from the injection site. The last type of research deals with a protein called utrophin. It is hoped that this protein could functionally take over for dystrophin. Scientists are trying to discover a chemical that will upregulate utrophin production without disrupting anything else in the body.
A regular skin exam (every 6-8 weeks) will help in the melanoma dectection process. Look for irregular skin growths and have the growth examined by a health care provider if the growth promotes cause for alarm.
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.
Roger W. Harms, M. D. U.S. National Library of Medicine, National Library of Medicine. (2014). Oculocutaneous Albinism. Retrieved from U.S. National Library of Medicine website: http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
Psoriasis is an autoimmune disease that affects 125 million people world wide according to the World Psoriasis Day consortium. The origin of psoriasis is unknown, but many doctors and researches believe that genetics, along with environmental factors, trigger a hyperactive reaction of the immune system that leads to the relatively harmless, yet uncomfortable skin disease. The response of the immune system induces skin cells to multiply and mature rapidly, causing the skin cells to accumulate on top of each other and as a result, the skin becomes red, scaly, itchy, and forms thick patches on the skin. Despite that this disease is the most frequent auto-immune disease in the world, there is no cure for it. Not only is there no cure for psoriasis, but this disease can lead to other problems depending on the severeness of the disorder for example: psoriatic arthritis. However, this chronic disease has several treatment options that if used correctly and in a timely manner, will reduce and lessen the symptoms.( Although there is no cure for psoriasis, understanding how it begins, recognizing the symptoms, and learning about treatment options can enhance the quality of life for a person diagnosed with psoriasis.)
Psoriasis is a chronic skin disorder, easily identified by its symptoms of white, scaly skin and red lesions, though not so easily cured or understood. In psoriasis, skin cells mature faster than the body can shed them, causing a buildup. Although there are many theories as to what the cause of such a disease might be – genetics, stress, or other triggers – no one is quite sure why the disease occurs, or what could be a possible way to fully cure it. In this essay we will explore the symptoms, types, and effects of this condition, and also some of the known treatments.
Skin is particularly rich in stem cells because so much skin is lost through normal wear and tear; you shed thousands, sometimes even millions, of dead skin cells every day. In mild cuts and burns, stem cells work to repair the damaged tissue. But in severe burns the stem cells in the burn area are destroyed, so doctors have to take skin from an undamaged area. The biggest obstacle in performing a skin graft is that, currently, only the burn patient’s own skin works reliably. If doctors try to use skin from another person, the patient’s immune system will eventually reject the graft. However, scientists are working on ways to grow skin that’s genetically compatible with the patient so that, even if the patient doesn’t have enough undamaged skin to use, the burns can still be treated
Our approach in managing wounds was far from being optimal in our own setting. After having read the article of Sibbald et al (1) and assisting to presentations during the first residential week-end, our approach at St. Mary 's Hospital Center 's Family Medicine Clinic must change. We were not classifying wounds as healable, maintenance or non-healable. We were always considering the wounds in our practice as healable despite considering the system 's restraints or the patients ' preferences. In the following lines, I will define and summarize the methods one should use in order to initial management of wounds and how to integrate it better to our site. The first goal we need to set is to determine its ability to heal. In order to ascertain if a wound is healable, maintenance or a non-healable wound.