Case Study Of Junctional Epidermolysis Bullosa

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.

Epidermolysis Bullosa is a group of inherited connective tissue disease that cause blisters that affects layers of the epidermis (outer layer) and the dermis (inner layer) of the skin. Because the skin of the infected person is so thin and fragile they tend to suffer from skin tears exposing areas that can easily become infected. Epidermolysis Bullosa not only affects the skin but has adverse effect to the inner lining of the mouth, throat and gastrointestinal. Also, in severe cases EB affects the musculoskeletal system. Other areas EB may affect are the urinary tract causing painful urination and the airway resulting in breathing problems.

These three types are caused by different gene mutations. EB Simplex is caused by autosomal dominant mutations in the genes responsible for keratin 5 and 14. Keratins are proteins that give the epidermis its structural support. These mutations can cause the skin to fall apart and cause blisters. It can cause people to loose hair and teeth. It is also the least dangerous type of EB. Junctional EB is caused by mutations in genes that “encode the proteins collagen 17 or laminin-5” (Fallon). These proteins help hold the skin together, and if they are absent, the skin would separate and blister. It can cause skin to shrink, and affected infants may not survive due to massive infection and dehydration. Dystrophic EB is caused by mutation in the COL7A gene that “produces collagen 7” (Fallon). It can also cause under skin blistering, and can have blisters in the mouth, esophagus, and digestive tract, which can make eating very

Imagine having skin so fragile that even a hug could cause wounds similar to a second-degree burn. Large, painful blisters are always present on your body, and your skin is permanently scarred from the slow healing of these blisters. Eating is a challenge, as hard foods can damage the mouth and esophagus. Your fingers and toes are fused together, connected by thick layers of scar tissue, preventing use and mobility. Worst of all, there is no escape from the terrible pain and suffering. This awful nightmare is epidermolysis bullosa, a rare genetic disorder for which there is no cure. Epidermolysis bullosa is the designation given to a group of hereditary diseases that cause the skin to blister and peel off as a result of even the mildest trauma. The origin of the name is easy to determine. The epidermis is the outer layer of skin; “bullosa” is another term for blister; “lysis” means breakdown. Therefore, epidermolysis bullosa is the breaking down and blistering of the epidermis (“What is Epidermolysis Bullosa?” 1). Epidermolysis bullosa, commonly known as EB, is a genetically inherited disorder caused by gene mutations. People afflicted with EB were born without the structures that are responsible for holding the layers of skin together. As a result, any pressure or friction of the skin causes a terrible wound that resembles a second degree burn (“Welcome to the World...” 1).

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

1. The following is a list of skin types and conditions. Divide them into two groups: skin types and skin conditions: provide five characteristics for each type and condition. Explain what the product recommendation would be and indicate what the treatment objective would be for each one SUN DAMAGED, COUPEROSE, DEHYDRATED, ACNE, CONGESTED, COMBINATION, DRY, NORMAL, SENSITIVE, OILY, MATURE Skin type: Normal, dry, oily, sensitive, combination, mature. Skin condition: Couperose, dehydrated, acne, congested, sun damaged.

Earlier the disease was considered a dysfunction of keratinocytes, but the emergence of new concepts have demonstrated immunologic and inflammatory dysfunctions, besides the importance of environmental factors also.13 Patients of Atopic Dermatitis can have both ,the permeability barrier defects and antimicrobial barrier defects of stratum corneum. 23

This report aims to evaluate the use and the impact of human’s DNA modification and briefly to discuss the advancement of this technology. The general manipulation of gene or DNA by human beside mutation and breeding only existed in the 1970s. However,

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.

Braun and his colleagues also performed a comprehensive analysis of the gamma-retroviral vector’s integration sites (IS) and concluded that the integrations were mostly accumulated at the transcription start site (TSS) of genes (1). The surprising element of the study was that most of these genes were known proto-oncogenes (like LMO2 and MDS1), indicating that the -retroviral vectors clearly has a preference towards oncogenes or proto-oncogenes for its integration and should thus be reconsidered for its use as a safe delivery system for gene therapy. In this study, the use of gamma-retroviral vector was associated with an exceptionally high rate of secondary malignancies in WAS, raising considerable safety concerns (2). This shortcoming has been increasingly raising concerns in researchers working on gene therapy and has been keeping them from using the readily available and easily transducible retroviral vectors for their experiments and trials. This is also the reason why most studies today use lentiviral vectors, which do not have the issue of causing insertional mutations, rather than retroviral vectors.

Your skin is the body’s first defense mechanism. A barrier against pathogens and water loss, the human epidermis undergoes a constant renewal process called cornification, as old dead skin cells, corneocytes, are shed and replaced by cells from the layers below to maintain constant protection. A defect in the skin barrier could develop various skin conditions, including atopic dermatitis. The most common form of eczema, atopic dermatitis is a chronic skin condition characterized by inflammation and itchy, dry patches of skin. Although no cause has been determined, researchers focus on studying genetic abnormalities and influences on a defective epidermal barrier (Sajic, Asiniwasis, & Skotnicki-Grant, 2012). Mutations in the filaggrin gene, with environmental factors that further damage the skin’s protective barrier, are one of many aspects contributing

The question of this article is to determine if skin dermal papilla (DP) cells can differentiate into induced pluripotent stem cells (iPSCs) by using the transcription factor, OCT4, instead of using all four transcription factor, OCT4, Sox2, Klf4, and c-Myc, which are usually used to differentiate somatic cells into stem cells.

Researchers have been conducting studies that could bring us closer to a breakthrough in regenerative medicine. Scientifically, regeneration means the process of regrowth of damaged or lost tissue. When the human body has become fully matured, around the age twenty-five human organs, such as the liver can be regenerated. If any damage is caused to the liver it is capable of regenerating itself, although it may not fully return to its original state. Our skin can also be classified as undergoing regeneration, as it is continually being renewed through peeling. Although humans are capable of a small form of regeneration we are incapable of regenerating complex organs with complete function after surgery or amputation. With that said, this information has lead me to question whether or not scientific technology is able to trigger tissue regeneration within the human body?

Current treatment of keratoconus includes cornea transplant surgery and corneal collagen crosslinking by Riboflavin/UV light [52]. A PEG injectable hydrogel containing Tyr-Arg-Gly-Asp-Ser (YRGDS) peptides was developed as a culture system for studying corneal keratocytes [53]. Keratocytes encapsulated in hydrogels remained viable for over 4 weeks with desirable mophology, and a hydrogel can support the production of collagen, biglycan, keratocan, and related DNA. However,