Epidermolysis Bullosa Research Paper

Dermatofibromas (also known as Fibrous histiocytoma and Fibroma simplex, Nodular subepidermal fibrosis, Sclerosing hemangioma), are common noncancerous (benign) small skin growths. Dermatofibromas are typically detected on the arms and legs. Other common areas are located on breast, face and hands. This growth is usually a benign, single structure that resembles a nipple. Its appearance can be discolored and contains hard, scar-like tissue. A minor injury such as an insect bite, puncture or most recently discovered arsenic, can result in the formation of a dermatofibroma. These growths or nodes only can be found on humans and have not been reported or found other animals. It is estimated that only 1:10 women

The cause the original blemish on the patient's skin was most likely an excess of sebum(oil) and dead skin cells that built up over time to clog the pores. Bacteria begins to accrue in the orifices of the face which leads to the formation of acne.

Epidermolysis Bullosa is a genetic disorder that causes the skin to blister even with the slightest force. Epidermolysis Bullosa is found in three different types. Each are caused by different genetic mutations. The most common form of Epidermolysis Bullosa (EB) is Epidermolysis Bullosa simplex (EBS). The less common types of EB

Skin (history of skin disease, pigment or color change, change in mole, excessive dryness or moisture, pruritus, excessive bruising, rash

through a break in otherwise healthy skin – such as a cut, insect bite or other injury – this is known as primary impetigo

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.

It was important to discuss with Lisa during consultation family history that could provide additional support for my final diagnostic conclusion .Going thru such topic area Lisa explain that her husband James dad was suffering with atopic eczema since childhood .This was quite an important piece of information as such conditions like atopic eczema ( dermatitis ) are hereditary conditions often (National Eczema Society ,2011).Atopic dermatitis or eczema is a chronic skin disorder inflammatory with pruritic skin that appears mostly on the face ,neck ,bends of the arms or legs caused by the malfunction in the skin barrier( NICE,2013).

There have been a dozen genes found to have mutations that cause Ehlers Danlos. Usually the most common result from mutation is in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB is a very small percentage of the hypermobility. Mutations in the vascular type result in mutations from the COL1A1 gene. Mutations in the COL1A1 gene or the COLIA12

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.

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

Junctional epidermolysis bullosa (ep-i-der-mo-lie-sis bu-low-suh), also known as JEB, affects about 25,000 people in the US and roughly 500,000 people around the world. Most of these people are young children because JEB is often lethal and 40% of those with the disease do not survive until adolescence. JEB is a recessive genetic connective tissue disorder, but there are currently no genetic tests that can be done to see if parents may be carriers of the disease. Parents usually find out that they are carriers after their child is born with the condition.

Vitiligo is a common dermatological disorder characterized by acquired, idiopathic, progressive, circumscribed hypomelanosis of the skin and hair, with total absence of melanocytes microscopically.[1] Various physiological, biochemical, histochemical and enzymatic studies have been done to find out the cause of the disease.[2] Genes certainly play a role in all aspects of vitiligo pathogenesis, even response to environmental triggers, and so genetics really should not be separated out as a distinct phenomenon. [3],[4] In the past few years, studies of the genetic epidemiology of generalized vitiligo have led to the recognition that vitiligo is part of a broader, genetically determined, autoimmune, and auto inflammatory diathesis. [3],[5] The pathogenesis of this disorder is uncertain, but it appears to be dependent on the interaction of genetic, immunological, and neurological

Hereditary skin blistering epidermolysis bullosa simplex (EBS) is an interesting problem for the purpose of this end of semester presentation because it is an inherited skin blistering disease caused by the fragility of a compartment within the basal cell. This disease is caused by a dominant mutation, either missense or small

It occurs due to a lethal autosomal dominant gene of a genetic mosaicism. Their studies showed that RASopathy mutations were activated in the HRAS or KRAS genes which in return activated the RAF-MEK-ERK signaling pathways. These pathways control cell proliferation, survival and differentiation (Levinsohn, Tian and Boyden 2013). This increased cellular proliferation which is why linear nevus sebaceous syndrome is linked most commonly to the HRAS and KRAS genes. The studies of Levinsohn, Tian and Boyden (2013) showed that the mutations of these genes begins during the development of the fetus which is why only 0.3% of infants are born with the lesions. To determine the exact cause of LNSS Wang, Qian and Wu (2015) used an Ion Torrent Personal Genome Machine to target next-generation sequencing. This is designed to translate chemically encoded information such as the bases of DNA and construct a library based on the information received. A long range PCR of the HRAS and KRAS genes was also used and the results showed a missense mutation in mainly the KRAS gene, more specifically in exon 1 which showed an amino acid substitution. On the other hand, Happle (2013) and Groesser, Herschberger and Ruetten (2011) used Sanger sequencing and a snapshot multiplex assay of RAS and found mutations of HRAS and KRAS in 97% of the sebaceous nevi. Their studies also showed that 95% of the lesions were produced from mutations involving the HRAS gene and only 5% were produced from the KRAS gene. A deep tumor analysis of these mutations proposed that the HRAS was exclusively found in the lesioned skin while the KRAS gene was found only in the lesional tissue. Another study done by Levinsohn, Tian and Boyden (2013) included five separate cases of LNSS and an Exome sequence was performed of their paired DNA. Their conclusions were just like those

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.