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 There are four types of epidermolysis bullosa: epidermolysis simplex, junctional epidermolysis simplex, dystrophic epidermolysis bullosa, and Kindler syndrome (Fine, 2010). Each type of the disease has different clinical manifestations.
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There is current research being done on gene therapy that could possibly cure epidermolysis in the future. The gene therapy involves injecting normal genes into the tissues. In turn, the normal gene will reproduce so the genes inside the tissues are also normal. There has been one successful attempt of this gene therapy with the non-Herlitz junctional epidermolysis. There is still much research to be done in this area but the future of gene therapy is looking hopeful (Sarkar et al., 2011).
Diagnosis
Epidermolysis Bullosa is somewhat hard to diagnose. A correct diagnosis begins with a skin biopsy from a new blister that is less than one hour old. The area from where the biopsy while be taken must be cleaned in a sterile manner. After the biopsy is obtained, a newer tool called immunofluorescence mapping is used. The immunofluorescence mapping looks for skin proteins and antibodies in the skin that correlate with the different types of epidermolysis bullosa. Epidermolysis Bullosa can also be diagnosed prenatally. This is done with a blood test or check swab that looks at the DNA of close relatives. The DNA is then examined for mutations (Sarkar et al.,
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To prevent secondary infections from the blisters, hydrocolloid dressings are often used (Fine, 2010). The hydrocolloid dressings keep the blistered areas moist. Moisture is important in aiding in the healing process of the blisters and the formation of new skin (Grocott, Blackwell, Weir, Pillay, 2013). Heat and humidity can be used to reduce the incidence of blisters. Topical opiates may be used to reduce the pain from forming or open blisters. Other therapeutic management surrounds other areas of the body that epidermolysis bullosa may effect. Therefore, eye exams, dental exams, and wellness checkups are important (Sarkar et al.,
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.
Barone, Eugene J., Judson C. Jones, and Joann E. Schaefer. "Hidradenitis Suppurativa." Skin Disorders. Philadelphia: Lippincott Williams & Wilkins, 2000. 21-25. Print.
When microdermabrasion removes the outer layer of skin the body then goes into a healing mode that promotes the making of new healthier cells. Microdermabrasion is like when one sustains an injury to his skin and the body sends treatment molecules to heal the damage. Mariane Fernandes conducted an experiment with the aim to evaluate the effects of microdermabrasion on skin rejuvenation. Fernandes stated in her article “Effects of microdermabrasion on skin rejuvenation” in the Journal of Cosmetic and Laser Therapy that “Microdermabrasion treatment promoted skin rejuvenation through an increase in skin thickness due to an increase in epidermal thickness and collagen organization” (Fernandes 26). Acne weakens and thins the skin epidermal layers, causing acne scars. Microdermabrasion heals the weak, thin, and fragile skin, which makes the skin smooth and more resistant to other damaging conditions. Doctor Bruce M. Freedman an aesthetic plastic surgeon and assistant professor of plastic surgery at Georgetown University also analyzed the dermatological changes associated with microdermabrasion in “Clinical and histologic changes determine optimal treatment regimens for microdermabrasion” in the Journal of Dermatological Treatment. Freedman’s experiment also yielded results of an increase of epidermal thickness
Various treatments may be used for months or years because eczema can be very persistent. There are creams and ointments that help calm the itching and irritation to help repair the skin, which could also be prescribed by your doctor. Drugs prescribed by your doctor could also be for infections caused by open sores or cracks. There are also oral drugs prescribed to help calm the inflammation for severe cases. Wet dressings may also be necessary when the eczema is severe. This involves wrapping the affected area with topical corticosteroids and wet bandages, usually done in a hospital. If the treatment is successful, it could still be possible that it may return. Light therapy would be needed to stop it from coming back. This involves exposing the skin to controlled amounts of natural sunlight, but it has harmful effects that could cause premature skin aging and an increased risk of skin cancer. Therapies like these are important to be spoken about with your doctor if it is what's best, especially if it's for younger children since it is riskier.
A doctor may suspect Epidermolysis Bullosa by the appearance of your skin but many tests must be performed on a patient to fully diagnose the disease. Many te...
Impetigo is a bacterial skin infection characterized by the eruptions of superficial pustules and formation of thick yellow crusty sores. It is highly contagious and can occur anywhere on the body, especially in exposed areas. The two different types of Impetigo are Bullous Impetigo, which are large blisters, and Non-Bullous Impetigo, which are crusted over blisters. Non-Bullous Impetigo is the most common type. Both types require contact precautions because they can be transmitted via physical contact with anyone who has it, sharing the same clothes, bedding, towels, etc... Because of the way young children proceed with their lifestyles, touching everything within their reach, the primary age groups targeted with this infection are, in fact, young children. It is most common on their facial area, mainly around their noses and mouths, but sometimes impetigo will appear on their arms and legs.
... trying to develop gene therapies, or medicines that would enter the cells and adjust DNA transformations accountable for albinism. So far, experts have had several victories in modifying areas of de-pigmented skin and hair in rats, but they are far from interpreting this study to humans. (Albinism by Chad H Medicine Plus February 26, 2014)
Vitiligo is an autoimmune disorder of the skin resulting in white patches. The body’s immune system targets and injures the melanocytes. Genetic factors play key roles through discoveries in association and family studies. The disappearance of the melanocytes is what causes the whites patches to appear. Patients who have the severe form of Vitiligo will lose pigment virtually anywhere on the body. Patients with mild Vitiligo, the disease may barely be noticeable. There are three patterns of Vitiligo , focal , segmented and generalized. Focal pattern depigmentation limited to one or only a few areas, segmented pattern has pigmented patches that develop on one side of the body only.
Gene therapy gives people who suffer from genetic diseases a chance to lead a normal life. Dangerous diseases, such as AIDS, SCID, Thalassemia and ADA can be cured successfully. In September 5, 2006, two people with advanced melanoma received Gene therapy and they got recovery soon. This is a breakthrough in cancer gene therapy. Gene therapy uses patients own cells to cure diseases, and, therefore, no rejection to their bodies. Furthermore, patients could get permanent cure from gene therapy without recurrence.
Diseases of the integumentary system , Dermatologists specialize in treating diseases , disorders , and injuries of the skin , hair and nails . They treat common conditions such as acne and warts ; eczema and psoriasis ; and many more serious disease such as skin cancer . A common skin condition is Eczema it is endogenous or constitutional , however in some contexts the term dermititis and eczema are used interchangeably to refer to the symptoms of these skin conditions . There are five main types of eczema , Atopic Eczema ( which is associated with asthma and hay-fever ) , Seborrhoeic Eczema ( typically affecting the scalp , eyelids , nose , and lips ; associated with the presence of pityrosporum yeasts ; common among AIDS patients . Discoid
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
• Extra padding around and over the blister, so that it does not rub on anything.
Genes are made of DNA – the code of life (Gene Therapy- The Great Debate!). The changes in genes may cause serious problems, which we called genetic disorder. In theory, the only method to cure genetic disorders is gene therapy, which basically means the replacement of genes in order to correct the loss or change in people’s DNA. Although gene therapy gives patients with genetic disorders a permanent cure, it is controversial because it has safety and efficacy problems, and raises ethical issues.