Epidermolysis Bullosa

Epidermolysis Bullosa
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. ... Show more content on
Helpwriting.net ...
She said "It's hard to watch both the parents and the child. I can see both suffering. Parents love to
touch, cuddle their babies to show their affection, but things are not the same, for parents with kids
that have this rare disease." Baby's need to have a lot of care, but if by touching or holding her you
can kill her or him, there is nothing you can do about it. While interviewing my aunt I could see
have hard it was for the parents. They couldn't even change their own baby's clothes, they had to
watch her getting wrapped in the bandages. When I asked both the parents and my aunt what is the
hardest case for you guys, they both said the same thing; "Seeing her suffer from her own touch.
Seeing her touch herself and bleed. We want her to be strong and fight this disease, and we want her
to grow old, and have a happy life." As a med– wife my aunt also talked about how important it is to
be cleaned while dealing with these diseases. Having a clean house, washing your hands before
touching the baby, because if the baby has open cuts on her, it would be so easy to get infected. She
also talked about how hard It is to shower the baby. They how to shower her or him every month,
because even the water hurts them. In most cases, if the person is a new born baby and has
Epidermolysis Bullosa, it would lead to death. During the interview
... Get more on HelpWriting.net ...

A Research Study On Stem Cell
My research about stem cells, I will be talking about what a stem cell is. Why are stem cells
important from a medical perspective? How are stem cells being used today? Where do scientists
get stem cells? Why is so much controversy over the stem cells? How does a zygote develop into a
baby? Why a zygote is considered a stem cell? A stem cell is an immature cell that can help
reproduce different types of cells throughout the body. There are three types of stem cells that I will
be focusing on : adult, embryonic, and totipotent stem cells. Adult stem cells can be found in
children and infants. These stem cells are found in small numbers in most adult tissues, such as bone
marrow or fat.Adult stem cells are used to repair tissue throughout the body, therefore the adult cells
are used to replace dying or lost cells in the body.Totipotent stem cells are the one and only type of
stem cell that can be used anywhere throughout the whole body.They are formed when a sperm cell
and a cell egg unite to make a one–celled fertlized egg.The research on all the cells is limited
because of the challenge receiving them in laboratory. Embryonic stem cells are produced when
newly– fertilized eggs begin to divide. Unlike adult stem cells, these cells can go anywhere
throughout the body. So what type of people actually need stem cells for their health? People with
cancer like leukemia and lymphoma can get stem cells as well as people with blood disorders and
solid tumors can also get the help

Essay Epidermolysis Bullosa
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 ... Show more content on Helpwriting.net ...
These are all very important in determining whether or not the patient has Epidermolysis Bullosa or
if it is a different skin disease. Knowledge of family history is also key because E.B. is mostly
inherited. The inheritance pattern may vary from dominant to recessive. The recessive form
(meaning both parents transmit the gene to a child) tends to be worse. Although the dominant form
means one parent carries the dominant gene enabling them to pass it on to their child. Diagnosing
correctly must also take into account the symptoms. There are many complications that can happen
with any one of the varieties of Epidermolysis Bullosa. The symptoms of a patient with
Epidermolysis Bullosa may vary depending on the type of Epidermolysis Bullosa. The symptoms
may include:
 Blistering of the skin, how severe depends on the type of Epidermolysis Bullosa.
 Deformity or loss of fingernails and toenails
 Internal blistering, including in the throat, esophagus, upper airway, stomach, intestines and
urinary tract
 Skin thickening on palms and soles of the feet (hyperkeratosis)
 Scalp blistering, scarring and hair loss (scarring alopecia)
 Thin appearing skin (atrophic scarring)
 Tinny white skin bumps or pimples (milia)
 Dental abnormalities, such as tooth decay from poorly formed tooth enamel
 Excessive sweating
 Difficulty swallowing (dysphasia)
 Alopecia (hair loss)
 Respiratory

Epidermolysis Bullosa Research Paper
There are four main types of Epidermolysis Bullosa, all can be fatal and they affect infants and
children. Each case is different but all of them are extremely painful. Each one ranges from a form
of a mild case to severe case and sometimes even death. The four types of Epidermolysis Bullosa
include Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Simplex, Junctional
Epidermolysis Bullosa and Epidermolysis Bullosa Acquista.
Each one mentioned above is very different form the other. Each one also has various sub–types of
the condition. Today approximately one in ever fifty thousand children born are affected by the
disease. In today's general population nine in one million suffer from this disease. Most people who
have this disease pass away at a very young age. The oldest know person living with this condition
was Tabatha Nichols of Hastings Michigan. She was twenty–four years old when she passed away
in her ... Show more content on Helpwriting.net ...
Some of the more severe symptoms include loss of the teeth due to blistering on the inside of the
mouth which effect the tongue cheeks and gums. Some people have internal blistering which effects
the upper airway, intestines, stomach, throat, urinary tract, and the esophagus. Sometimes with the
internal blistering it causes death due to malnutrition from not getting the proper nutrients and also
causes death by suffocation due to the blisters and sores in the throat and airways.
Most doctors can tell when a child is born with Epidermolysis Bullosa just by looking at them but
still need to preform tests to make a positive diagnosis. Some of the test may include biopsy of the
skin in which the doctor takes a piece of infected tissue to determine exactly what type of
Epidermolysis Bullosa they have. Some other tests include genetic testing of the parents to see
which one carries the mutated gene or if both of them

Functions Of Type Vii Collagen
Pathophysiology
The COL7A1 gene contains the instruction manual for making proteins that are used for
strengthening and supporting the connective tissue in the body which includes tendons, ligaments,
bones and skin. "The proteins produced from the COL7A1 gene, called pro–α1 (VII) chains, are the
components of type VII collagen." (http://ghr.nlm.nih.gov/gene/COL7A1) When three pro–α1 (VII)
chains twist together, they form a triple–stranded molecule called a procollagen, these molecules are
secreted by the cell and are processed by enzymes which remove extra protein segments. When
these procollagen molecules are processed by getting rid of the extra segment on the ends, they then
can arrange themselves into longer, thinner bundles of mature type VII collagen.
Type VII collagen is the major component of anchoring fibrils which is found in the basement
membrane zone, which is a two–layer membrane found between the epidermis, and the dermis.
"Anchoring fibrils hold the two layers of skin together by connecting the epidermal basement
membrane to the dermis." (http://ghr.nlm.nih.gov/gene/COL7A1) Without the anchoring fibrils
holding those layers together the skin become extremely fragile and blistering occurs with the
slightest of trauma, heat, rubbing or friction. Injury may also occur from the removal of adhesive
tape or tight clothing. Children with EB are called "Butterfly Children" because their skin is so
fragile, like a butterfly's wings.
Diagnosis

Does God Allow Evil To Exist
How could an all powerful, and morally perfect God, allow evil to exist? I argue that from a logical
perspective, a PKM God and evil cannot coexist. I will also refute against claims that evil may be
present for good intents, as well as giving examples of the harm it causes in real world
circumstances, and how a powerful, knowing, and morally perfect God would not allow such evils
to exist. The most accepted version of God, worldwide, is the PKM God, which stands for: all–
powerful, all–knowing, and morally perfect. The dictionary defines evil as "profound immorality,
wickedness, and depravity", all of which are present in our world today. From a logical perspective,
if God is all–powerful, then he is most definitely powerful enough to cease ... Show more content on
Helpwriting.net ...
There is a possibility that God gave humans free will so that in return, they may give him genuine
love, rather than forced love. The problem of evil stems from free will, because humans can freely
choose not to love God. But even if humans choose to love God, everyone commits small–scale acts
of evil. It can be argued that since the world is evolving, the judgement of God has also evolved in
order to fit with the times. Therefore, his judgement may not be quite as harsh as the bible states it
to be. The criticism against this theory, is that since God is said to be an all–powerful and morally
perfect being, there would be no point in changing himself for humankind. If he were to change
himself in order to fit accordingly to today's humans, it would mean that they do in fact have free
will, which disproves the existence of an omniscient God. As humans, we do not know where God's
morality lies. Could he be evil, or could he be moral without enough knowledge or power over evil?
God is so incomprehensible that we as humans cannot begin to understand how a PKM God and
evil can coexist. What we do know is that there are tremendous evils present in this world, and from
the logical perspective, if such evils are present, a PKM God cannot co–exist with them. There may
still be a God, and it is arrogant to say that there is absolutely no God at all. However, if evil is
present in this world, the God in which we refer to the most, cannot be all–powerful, all–knowing,
and morally perfect at the same

Cutaneous Masculitis
Cutaneous small vessel vasculitis (CSVV) is synonymous with cutaneous leukocytoclastic vasculitis
(LCV) and refers to involvement of the postcapillary venules of the dermis by intense neutrophilic
vascular inflammation. Clinical studies of colchicine in CSVV shown mixed results. In a
prospective, randomized controlled trial involving 41 patients, colchicine had no statistically
significant therapeutic effect [4]. In contrast, case series and case reports have suggested that
colchicine can be effective [2,3]. So, oral colchicine (0.6 mg two to three times daily) is one of the
first–line therapy for mild recurrent or persistent CSVV. Initial signs of response are typically
observed within 1 to 2 weeks [13,14]. Colchicine was also effective in the treatment of urticarial
vasculitis [3]. ... Show more content on Helpwriting.net ...
Colchicine can inhibit the accumulation of collagen by blocking the conversion of procollagen to
collagen, and by stimulation of collagenase production [15]. But the data available do not support a
role for colchicine in treating scleroderma. In an open trial, 20 of 23 patients treated with colchicine
improved, but a short term trial showed progression of skin, musculoskeletal, and pulmonary
involvement under colchicine therapy [4,16]. 4.6– Sweet's syndrome Systemic glucocorticoid is the
gold standard for Sweet syndrome treatment, but colchicine (1.5 mg/day) can be an alternative first–
line therapy [17]. Colchicine's efficacy in the treatment of Sweet's syndrome has been demonstrated
in small case series. In a retrospective study, 18 out of 20 patients with Sweet's syndrome responded
to colchicine therapy. Fever, skin lesions, arthralgias and leukocytosis normalized within 14 days
[4]. In another retrospective study of 90 cases, the first–line treatment consisted of colchicine with
good results [18]. 4.7– Epidermolysis bullosa

Pemphigoids Essay
PATHOGENESIS Current evidence suggests that mucous membrane pemphigoid develops as a
consequence of the loss of immunologic tolerance to structural proteins in epidermal basement
membrane. This loss of tolerance culminates in the development of circulating autoantibodies that
bind epidermal basement membrane, elicit inflammation, and weaken adhesion of the overlying
epidermis. As noted earlier, a variety of different autoantigens are recognized by circulating
autoantibodies from patients with mucous membrane pemphigoid. Circulating IgG and/or IgA
autoantibodies against components of the basement membrane zone found in mucous membrane
pemphigoid patients' serum indicate mucous membrane pemphigoid is mediated by a humoral
immune response. ... Show more content on Helpwriting.net ...
Mucous Membrane Pemphigoid. Dent Clin North Am 2013:57(4):611–30.] 1) Intracellular (Figure
11) portion of hemidesmosome includes plectin and BPAG1(which is a 230–KDa protein plaque) 2)
The portion attaching to the BMZ contains BPAG2 (which is a 180–KDa collagen like
transmembrane protein) 3) Anchoring filament under Hemidesmosome contain Laminin–5,
laminin–6 and uncein 4) Anchoring fibrils of the BMZ are composed of type VII collagen
(200KDa).[51] An antibody induced complement mediated process results in epithelial detachment.
Passive transfer studies in newborn mice have shown that antibodies to BPAg2 induce subepidermal
blisters by an inflammatory mechanism. This interaction triggers immunologic events that result in
the expression of inflammatory mediators that induce migration of lymphocytes, eosinophils,
neutrophils, and mast cells to the BMZ. The separation of epithelium from the underlying tissue
within the BMZ results from either direct cytotoxic action or the effect of lysosomal proteolytic
enzymes. Passive transfer studies of antibodies against laminin 5 induce noninflammatory
subepidermal blisters which indicate that antilaminin 5 IgG is pathogenic, although the mechanism
is not clear. Anti α6 Antibody produced separation of epithelium from basement membrane.
Fibroblasts also are activated secondary to the

Epidermolysis Bullosa Research Papers
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. In 2003 the history of Epidermolysis Bullosa was
brought to the public's attention in the United States of

Pemphigoid Gestationis Research Paper
Pemphigoid gestationis (PG) is a very rare pregnancy–associated autoimmune skin disease that is
characterized by an itchy rash that progresses to form blisters. Initially, the rash appears around the
navel before spreading to other parts of the body including the back, trunk, arms, and buttocks.
Areas such as the face, scalp, palms, soles and mucuous membranes are very rarely affected,
Whilst PG may occur at any time during pregnancy or even throughout, it is most common during
the second and third trimesters – there is a possibility that the rise in estrogen associated in these
stages both triggers and aggravates the condition. Symptoms may lessen or spontaneously resolve
towards the end of the pregnancy but this is often short–lived, 75–80% of women will experience a
flare around delivery
The condition generally lasts 6 months with ... Show more content on Helpwriting.net ...
It appears that following an immunological event, auto–antibodies of mainly the IgG1 subclass are
produced that target and bind an extracellular domain of the carboxyl terminus of the bullous
pemphigoid antigen (BPAg2 – also called BP180). BPAg2 is found within the basement membrane
(the zone between the epidermis and the dermis).
Upon binding, the antigen–antibody complex activates a series of pathways thought to damage the
dermal–epidermal junction, result in inflammation and separation of the epidermis from the dermis
allowing fluid to build up and create a blister.Before the appearance of blisters, the rash in PG can
look like that of numerous other skin diseases. Thus, there are diagnostic tests which have been
outlined based on clinical picturing, direct immunofluorescence microscopy and serology.
A skin biopsy can useful in showing typical features of the subepidermal blistering. This is not a
confirmation of PG because such blistering may be microscopically similar to that seen in
dermatoses such as bullous pemphigoid (BP) or epidermolysis bullosa acquisita

Eb Simplex Research Paper
Epidermolysis Bullosa the most rarest and painful skin condition ever known to modern medicine,
this condition is an inherited gene that is Autosomal, meaning Y and X chromosomes. EB can either
be Autosomal Dominant or Receive depending on the type of EB a person has, also this Condition
affects a protein that holds skin together with out this protein working or functioning the skin can
have a faulty structure resulting to the skin not being as strong as it needs to be. With the skin being
very sensitive to movement and friction it can be difficult to move, eat and the person is prone to
infection and a higher ricks of skin cancer. Based on statistics form the national Edpidermoiysis
Bullosa registry, EB happens in 20 newborns per 1 million live births and there is an estimated
25,000 to 50,000 people in the United States have some from or type of EB. ... Show more content
on Helpwriting.net ...
Junctional EB is autosomal recessive condition that is in the gene that codes collagen 18 or laminin–
5 both of these proteins help the skin anchor together with out theses proteins the skin is more
sensitive and gets blisters. Most junction EB cause blisters, some of these types improve as the
periods gets older while a more rarer from of junction EB can be fatal to infants. Most parents are
unlikely to know they Carry this gene since it is recessive and they need 2 of these receive codes to
feel the effects of the condition

Case Study Of Junctional Epidermolysis Bullosa
In recent news, a 7–year–old boy from Bochum, Germany was diagnosed with a severe form of
Junctional Epidermolysis Bullosa (JEB), underwent experimental gene therapy in order to restore
fully functional epidermis. JEB is a disorder in which three specific genes – LAMA3, LAMB3 or
LAMC2 –encoding laminin–332 in the basement membrane are missing or defective. Specifically,
this patient had a homozygous acceptor splice site mutation within intron 14 of LAMB3. JEB
inhibits epidermal strength and toughness, leading to blistering, chronic open sore formation,
reduced quality of life and increased likelihood of skin cancer. Currently JEB is incurable and over
40% of patients die before 10 years of age.
It should be noted that prior to the ... Show more content on Helpwriting.net ...
Additionally mentioned in lecture was the construction of novel DNA molecules through covalently
joining DNA fragments of interest using restriction enzymes and vectors. With both retroviruses and
novel DNA molecules via vector formation in mind, one is able to apply this knowledge to better
understand the methods the researchers underwent for this innovative treatment. Doctors inserted a
retroviral vector expressing the LAMB3 cDNA into the primary keratinocyte cultures, via cassette
mutagenesis with use of specific restriction enzymes. Due to the patients LAMB3 mutated
deficiency, the retrovirus insertion was able to properly insert and replicate in order to significantly
improve functionality and renewal of LAMB3 and therefore, patient's JEB.
Over the next 21 months, the patient underwent three follow–up appointments 4, 8 and 21 months
after grafting; while also receiving ten randomized biopsies. All biopsies showed the regenerated
epidermis consisted of nearly identical amounts of laminin 332–β3 when compared to a control
epidermis. Hybridization using a vector–specific transgene–LAMB3 probe with comparison to a
Cdn1 probe control, disclosed that the regenerated epidermis was made up of only transgenic
keratinocytes. Lastly, electron microscopy supported standard basement membrane thickness and
morphology. Therefore, supporting the fully functional epidermal regeneration with the use of
grafted transgenic cultures.
Figure 1: Epidermis–Dermis Repair. a,

Epidermolysis Bullosa Simplex Dowling-Meara
Epidermolysis Bullosa Simplex Dowling–Meara (EBS–DM) falls under the category of a genetic
disorder, but it directly affects the epithelium system. The disorder allows the skin to blister very
easily. Epidermolysis Bullosa Simplex also makes the skin very fragile and susceptible to open
lesions that could then lead to infection. There are two different genes that could cause the disorder,
cytokeratin 5 (K5) and cytokeratin 14 (K14). This particular study addresses the increased level of
Jun N–terminal kinase (JNK), which in theory, leads to the mutation of the phenotype. Many
questions were addressed and answered in the study performed by Martin Wagner, Andrea Trost,
Helmut Hintner, Johann W. Bauer, and Kamil Onder. The hypothesis

Epidermolysis Bullosa Essay
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. In this way,
little was thought about the sub–atomic systems

Lobstein Syndrome Character Analysis
Have you ever watched a video from the kid president? Do you know the character named Brick in
the show "The Middle"? The boys who star in these shows both have something in common. They
have osteogenesis imperfecta (OI). It is also known as brittle bone disease or Lobstein syndrome. OI
causes the bones to be so brittle that even small movements or impacts can cause a break. These
breaks are what often causes the diagnosis to come about. It can also cause the whites of a person's
eyes to turn blue and can cause hearing loss. It's obvious that the condition can also cause chronic
pain, bone deformity, small stature, spinal curvature and depression. OI is actually a deficit in the
connective tissue. It hinders the ability to make connective

Effect of Technology on Human Life
HAS TECHNOLOGY DELIVERED ON ITS PROMISE OF HUMAN BETTERMENT?
PRESENTED TO
DR. KRISTEN DOMIKE
BY
IMAOBONG UMOESSIEN
114279
ON
20 NOVEMBER 2012
UPEI
ABSTRACT
The purpose of this research was to understand and answer the question "Has Technology Delivered
On Its Promise Of Human Betterment?". To do so, we searched for the effects of medical
technology on humans, using articles from the textbook and internet, the summary of lectures
undergone over the semester and personal experience. Using ideas from the article "The Blow Back
Of Duality", I agreed that as medical technology became progressively fruitful, we encounter even
more harmful diseases, although I disagreed with the author that this is basis for refuting the total
effect of ... Show more content on Helpwriting.net ...
The bubonic plague is an infectious disease that is transmitted from small rodents and their fleas to
human and kills two thirds of infected humans within four days. In the sixth century, the first
recorded epidemic of the bubonic plague killed approximately twenty five million people in the
roman empire only. In the fourteenth century, the black death struck again, killing 30% – 60% of the
European population and a third of humanity (THE MIDDLE AGES.NET ). In the pre–antibiotic
era, that is, before there was any medication (1900–1941), the mortality rate of those infected with
the plague was 66%. Today in the United States, it has decreased to 11% (Plague in the United
States). This is an instance where the effect of medical technology is profoundly shown. Today, with
the proper treatment we see the bubonic plague as an inconvenience as opposed to the death
sentence it was merely sixty years ago. However, as medical technology has made us more
proficient in handling diseases, more dangerous diseases have sprung up for us to face. With the
advancement in health came the advancement in the nature of illnesses faced daily, like cancer. This
can be related to Jean Baudrillard's point of view in the article "The Blow Back Of Duality"

(Baudrillard, 2012). He believed that the blow back of duality is the way the world works already,
an inevitable reconstruction of the world by nature that occurs as a reaction to

Features Of Bullous Diseases : Skin, Nail And Hair
DERMOSCOPIC FEATURES OF BULLOUS DISEASES: SKIN, NAIL AND HAIR
By
Asmaa Atia Eisa
M.B., B.Ch.,Faculty of Medicine , Zagazig University
INTRODUCTION
Blisters can occur in a variety of conditions. They may result from damage of epidermal cells. Loss
of adhesion between the cells may occur within the epidermis (pemphigus) or at the basement
membrane (pemphigoid). In eczema there is oedema between the epidermal cells, resulting in
spongiosis. Sometimes, there are associated inflammatory changes in the dermis (erythema
multiforme/vasculitis) or a metabolic defect (as in porphyria). The integrity of normal skin depends
on intact connecting structures between cells(Jones, 2014).
Bullous diseases have a great impact on the patient and their relatives and have severe economic
effects for the family and health services. These diseases have been the subject of intensive searches
in recent years, and the study of both the genetic and autoimmune diseases has made major
contributions to our knowledge of the biology of the skin (Wojnarowska et al., 2010).
Bullous pemphigoid results from IgG autoantibodies that target the basement membrane cells
(hemidesmosome proteins BP180 and BP230). Pemphigus vulgaris results from autoantibodies
directed against desmosomal cadherin desmoglein 3 (Dsg3) found between epidermal cells in
mucous membranes and skin. This causes the epidermal cells to separate, resulting in intraepidermal
blister formation. This relatively superficial split

Epidermolysis Bullosa, also referred as "EB" is a very dangerous disease. It can be inherited from
parents. It is a common disorder that can affect your skin. EB is a "life threatening" disease (Fallon).
It can be inherited from a dominant gene or a recessive gene. A "mutation in the COL7A1 gene" can
easily cause EB (Pausch). This deadly disease affects about 50,000 people in the United States.
Children with this disorder can "lose fingers and toes" (Ezzell).Sometimes, it can affect lungs, the
esophagus, eyes, nails, the mouth, teeth, and muscles. Scientists have discovered 23 types of EB.
Scientists at the University of Chicago say that the mutation in the cells' keratin causes blisters to
appear by "weakening keratinocytes" so they get dissolved when they are touched (Ezzell). In other
parts of the world, the disease would affect "one in 100,000" people (Fallon). ... Show more content
on Helpwriting.net ...
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

Parkinson's Disease
Do you know someone in your life who is suffering from a disease with no cure, like Parkinson's
disease? Imagine a world where when people got old they didn't need to worry about Parkinson's
disease, or a world where mothers and fathers didn't have to live in fear of their child developing
Tay–Sachs disease or cystic fibrosis, diseases where their child could die before the age of four.
Stem cells that are in our bodies, and that we can take from our bodies can be used to prevent all of
this, with proper research. Stem cells are cells that can be taken from the body, and they are the
building blocks of the human body. These cells can be turned into any cell in the body, and they
would be a perfect match for the person receiving the treatments. ... Show more content on
Helpwriting.net ...
Stem cells have been used in the world before to develop vaccines for diseases basically eradicating
them. These diseases include small pox, chicken pox, and the MMR vaccine. The development of
these vaccines has made it easier to conduct research on synthesizing a cure in diseases that are
more complex. The breakthrough research from those cures has furthered our, "...understanding of
diabetes, MS, and Parkinson's disease that offer the potential for new treatments and cures." (Allum
6) The cures that we have found in the past have helped with research for developing new ones. The
more complex diseases would be diseases that affect the brain and the nervous system this could
include autism and cerebral palsy. To find new treatments for diseases like this would be a major
breakthrough because it would affect more than just the patient, it would also affect the lives off
loved ones because the patient finally received the care that they needed. Developing cures for
diseases like this could affect millions of lives by themselves, but those three diseases are not the
only ones they are trying to treat and they could affect millions more lives. Other diseases that
researchers are attempting to find new treatments for are all types of cancer and AIDS. Stem cells
have already been used to try to cure cancer and AIDs and it is showing promising results. The cells
that they used treated and show promising results to making improved treatments, or even cures for,
"...lung diseases; cancers; autoimmune diseases..." (Bishop 4) and many other diseases. If scientists
could find cures for diseases like cancer then it would be an incredible breakthrough because it
would save millions of lives, and it could prevent people from going through radiation treatments.
Since there has already been promising results from tests then scientists may be close to discovering
a cure for cancer, and this would change so

Rebbie Research Paper
Have you ever felt the tiny and painful sensations in your eyes when you look at those crazy
illusions on the Internet? Or when you even read in too dark or bright of light? This is how I thought
my life was. Unheard of and painful. I felt like nobody else felt this. Ever. I'm sorry, let me
introduce myself. Hello. I'm Rebecca Smith but you can call me Rebbie. That's what my friends call
me, if you can even consider them that. I have Epidermolysis Bullosa. I've struggled with this my
whole life. Basically what it is, is whatever friction there is on my body, it makes me blister. I have
very weak tissue in my skin. Every day I beg my mom to let me skip school. In the hallways there
are always kids running past me. Even if they barely touch me,

A Life-Threatening Disease Causing Infants to Blister,...
A genetic disorder that affects an estimated 25,000–50,000 people in the United States and can be
life threatening. This disease causes blisters on the skin but also in the mouth, esophagus, lungs and
muscles. Though this disorder is not common it can be mild with little symptoms, disabling, where
there are a few problems that may occur or it can be life threatening. This disease is called
Epidermolysis Bullosa.
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 ... Show more content on Helpwriting.net ...
The lives can be cut short if internal organs start to blister. Also those who have EB are more likely
to have skin cancer than those without EB. Another way that life could be cut short is because EB
can cause sepsis which is when bacteria is spread all over the body via blood stream.
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.
A second type of this disorder is called Junctional Epidermolysis Bullosa (JEB). This is an
autosomal recessive condition. Unlike EBS this variation of EB is more severe and causes more
blistering and it is easier to blister. Mutations caused on the collagen 17 gene which is located on
chromosome 10 along with laminin–5 which is located on chromosome 20. Just as there are
different variations of EB there are two different forms of JEB. There are Herlitz and non–Herlitz.
Herlitz is more severe and often can cause fingers and toes to fuse together. Herlitz JEB affects all
the skin not just certain parts such as the knees, feet, hands and

An Evaluation Of The Dystrophic Epidermolysis Bullosa...
We live in a culture that is constantly inundated with streams of information through a variety of
social mediums. Patients have unlimited access to an extensive variety of resources regarding
medical care through online blogs, websites and social media. In 2009, 45.5% of adults utilized
online resources to gain more information regarding their health (Women's Health USA, 2012).
Considering that statistic is antiquated, one would suspect the percentage to have grown
significantly over the years with the increase in access to online resources. It is imperative future
advanced practice nurses have the ability to guide patients in evaluating what they read online. Can
these sources provide reliable and appropriate medical advice? The Dystrophic Epidermolysis
Bullosa Research Association of America (Debra.org) is a website dedicated to educating the public
about Epidermolysis Bullosa (EB). EB is a rare genetic heterogeneous disorder that affects the
connective tissue of the skin. The body is unable to produce the appropriate protein and keratin to
provide strength and protection of the skin. As a result, the skin is extremely fragile, blisters it easily
breaks down from rubbing or slight friction. The intended audience of the website is to provide
resources for parents and caregivers of children with EB. The site was developed by Arelene Pessar
in 1980. Her son was born with EB. She created the organization to raise awareness among the
general public and government

Clinical Features Case Study
CLINICAL FEATURES It primarily affects elderly individuals in the fifth to seventh decade of life,
with average age of onset being 65 years. BP in childhood has been reported from various countries
including India. There is no known ethnic, racial, or sexual predilection. BP may present with
several distinct clinical presentations and the onset may be either subacute or acute. The
characteristic skin lesion is a large tense blister arising on erythematous base or on normal skin.
These lesions are most common in the lower abdomen, inner or anterior thighs and flexor forearms,
although they may occur anywhere. The bullae are usually filled with clear fluid but may be
hemorrhagic. Significant pruritus is frequently present. Oral and ocular ... Show more content on
Helpwriting.net ...
IgG deposits are rarely present in the absence of C3, but presence of IgA, IgM and IgE has been
described. This pattern of immunoreactants is not specific to BP and may be seen in cicatricial
pemphigoid and epidermolysis bullosa acquisita. BP can be differentiated from these conditions by
the salt–split technique in which patient's skin biopsy sample is incubated in 1 mol/l salt solution
prior to performing DIF. This process induces cleavage through the lamina lucida. Direct
immunofluorescence on salt–split skin reveals IgG on the blister roof (epidermal side of split skin)
in BP.[46] Direct and indirect immunoelectron microscopy ultrastructurally localizes in vivobound
IgG autoantibodies to the binding site at the basement membrane. Immunoblotting or Western
blotting demonstrates reactivity of IgG in the sera of BP patients, with protein extracted from
healthy human skin. Immunoprecipitation also demonstrates reactivity with BP230 and BP180.
Unlike immunoblotting, immunoprecipitation is performed with native rather than denatured protein
and is more sensitive. Enzyme linked immunosorbent assay analyzes the BP antigen specific IgG
autoantibodies in the patients' sera by using various lengths of recombinant proteins of the BPAg1 or
BPAg2 antigens. Immunohistochemistry on formalin fixed

Should Euthanasia Be Treated Disabled?
An adult can become very sick throughout their life, and many things could happen to them along
the way. Not only the terminally ill but what about those who get hurt or become disabled? Around
the world car accidents or just any kind of accidents happen everyday, some of the people that leave
from these accidents alive are in pain or there is a machine keeping them alive. If someone gets hurt
and there is no way for the doctors to fix it, they should not have to sit there everyday wishing that
their life could just end when they know no one can help.
Along with the suffering and pain one is in, euthanasia is thought about for other reasons too. The
people at are suffering are constantly sitting in the hospital without contact to people outside of the
hospital. Their families will come see them, but what about those who have no family near them or
lost their family before they got ill. Many of these people become severely depressed, sitting in the
hospital knowing that they cannot get better and their family and friends can do nothing about it.
Their mind will start to play tricks on them, they will not know what to do anymore, they will start
to become crazy knowing that they cannot help him or herself. They will not be able to take care of
him or herself, they will start to feel as if they are a burden on their family or friends.
As a family member, one could not watch their loved one suffer everyday and every night. To sit
there and watch one's mother, father,

Miracles and Tragedies with Stem Cell Treatment Essay
Miracles and Tragedies with Stem Cell Treatment
Abstract:
This research paper will discuss about some life impacting cases from various sicknesses using stem
cell treatments. It will cover a case in which have given people another chance to live a normal life.
In one of the cases, the stem cell treatment has been able to cure a fatal genetic disease called RDEB
for two young brothers. The second will show that after autologous stem cell transplantation a
woman had died two days after.
A stem cell is a cell that can go on to become, basically, a different cell. What this means is that a
stem cell isn't programmed specifically to a job in the body, so with that the stem cell could be used
to cure a sickness or a disease. Using the ... Show more content on Helpwriting.net ...
The children's skin is so astonishingly fragile that with minimal friction, tearing and blistering can
occur, consequently leading to painful wounds and scarring. (Thomas H. MaughII page 1) Since
solid food provides erosion of the esophagus. Nate has been forced to eat pureed food But death
most likely comes from malnutrition, infections, or aggressive skin cancer.
The only treatment has been to keep the sick children wrapped in bandages to protect and hold the
skin preventing fatal complications. (Josephine Marcotty page 2, Thomas H. Maugh II page 1)Until
now, Dr. Angela M. Christiano of Columbia University Medical Center developed an idea of using
circulating stem cells to treat the disease in mice. ( Thomas H. Maugh II page 1) Along with Dr.
John Wagner and Dr. Jakub Tolar a blood specialist at the University of Columbia helped Nate get
the cells he needed in a full transplant using cord blood and bone marrow.(Josephine Marcotty page
2) This is the first time that cells from a bone marrow and cord blood had been used to treat the
disease or condition that does not involve blood.
Researchers at the Columbia University, which particularly specialize in adult stem cells, began
experimenting with all sorts of stem cells located in bone marrow and blood from umbilical cords.
Dr. Jakub Tolar tried 10 to 15 different types of cells in the genetically engineered mice, praying that
one would

Evil Within Theistic Framework
Evil cannot be justified within a theistic framework. Five ideas attempts to argue the existence of
evil coincide within a theistic framework. However, all five ideas are flawed and cannot justify how
evil can exist within a theistic framework. Counter argument against the five ideas will be discussed
below. The first idea argues pain alerts us of danger acting as the body's warning system. A broken
leg would hurt and forces us to leave it alone to heal. However, pain is an imperfect mechanism for
danger avoidance. That broken leg was caused by a car accident. A driver lost control and
accidentally drove into a lake. The driver cannot escape due to severe pain and drowns. As a result,
the pain contributed the death of the driver instead ... Show more content on Helpwriting.net ...
This argument does not justify why there are so much evil and the extent of evilness in the world.
People suffering from cancer does not also have to suffer from diabetes and blindness to appreciate
the goodness in life. The world contains more evil than is necessary to appreciate the good. The
third idea argues evil is punishment for wrongdoing. In this sense, the worst sinners should suffers
the worst disasters. However, no such correlations exist. Some criminals live a long and healthy life
without getting punish for their crime. In fact, society does not find out about the criminal's sin until
after reading the will. Additionally, stillborn babies have not commit any sins to deserve the capital
punishment. The fourth idea argues evil is the result of human free will. God purposely created
human to have free will, the power to choose. If human have to exist in the world then there will be
evil as a result of the humans' choices. However, this does not account for the occurrences of natural
evil. Human did not choose or cause hurricane, earthquake, diseases, or any other natural disasters.
The Free Will Defense does not validate why God would allow natural evil to burden and destroy

Regenerative Wound Medicine
Regenerative medicine such as tissue replacement and wound healing has been used quite
extensively for skin treatments over the years. Understanding the pathology of skin injury will bring
effective treatments and wound healing outcomes. Several strategies like traditional skin grafts,
certain biomaterials, and stem cell therapies are vital for current tissue injuries and the future of
tissue regeneration.
Introduction and Pathology
The skin is said to be the largest organ in a human body. It is divided into 3 layers: epidermis (outer
layer or superficial layer of the skin), dermis (connective tissue, hair follicles, and sweat glands),
hypodermis (subcutaneous fat) (Chen, 2009). These layers act as a barrier by protecting the body
from environmental ... Show more content on Helpwriting.net ...
Stem cells are multipotent which give rise to multiple cell types and are known for their self–
renewing and tissue differentiation abilities. Research has shown SCs to have successful results in
the field of skin regeneration (Duscher, 2016). SCs of interest for wound healing include adult
mesenchymal stem cells (MSC's), embryonic stem cells (ESC's), and induced pluripotent stem cells
(IPSC's). MSCs are isolated mainly from the bone marrow and other tissues such as adipose and
nerve tissues and are administered locally as well as systemically with little to no immunoreactivity
(Tartarini, 2016). MSCs regenerative benefits in wound injury is not seen in its structural
capabilities rather it's seen in its escape of trophic mediators (Duscher, 2016). Bone marrow MSCs
injected in wound sites produce high amounts of collagen and growth factors leading to faster
healing, epithelialization, angiogenesis, and cellularity (Duscher, 2016). Studies also show that bone
marrow derived MSCs injected in injury sites had decreased wound size, increased vascularity and
dermal thickness (Duscher, 2016). Although MSCs for wound therapy has been proven effective and
well tolerated in patients, there still seems to be limitations such as invasiveness of their harvest,
cost of resources, and hazards that deal with growing cell cultures to attain healing

Essay On Junctional Epidermolysis Bullosa
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.
JEB can be characterized by symptoms including fragile skin that results in blisters and skin
erosion, and is prone to bacterial infections and skin cancers, such as squamous cell ... Show more
content on Helpwriting.net ...
An article in the New York Times recently mentioned a promising new treatment for JEB. After
losing ⅔ of his epidermis due to a bacterial infection, a 7–year–old boy with JEB was sent to a burn
unit in Germany, as burn units typically have treatments for people that lose a majority of their skin.
The boy was put in a medically–induced coma and doctors attempted to treat him with antibiotics,
bandages, special nutritional measures and a skin transplant from the boy's father. None of the
treatments worked and the boy was expected to live for only an additional two months.
Doctors at the hospital reached out to Dr. Michele De Luca, the director of the Center for
Regenerative Medicine Stefano Ferrari at the University of Modena and Reggio Emilia in Italy. Dr.
De Luca had previous experience with smaller skin grafts for JEB, larger skin grafts for burn
victims and corneal grafts for eye injuries. His team removed ½ in2 of the boy's skin in an area
where his skin was not yet affected and genetically engineered his cells with a retroviral vector to
the full version of the LAMB3 complementary DNA, which was a precursor to the normal version
of his mutated gene. The cells were grown into sheets totaling 9 ft2 and grafted back onto his body.
80% of the patient's skin was replaced and the treatment was successful. The boy remains recovered
two years after the treatment and is now

Paragon Biosciences Research Paper
Jeff Aronin and Paragon Biosciences brings new hope and innovative medical therapies to those
suffering from complex medical conditions. He takes prides in bringing innovative products into the
healthcare field, for patients who suffer from debilitating medical conditions. Committed to making
a difference in healthcare, Paragon Biosciences partners with experts in medicine to bring
innovative healthcare to patients who may have very few available treatment options. Thirteen
products made exclusively by companies owned by Paragon Biosciences, received FDA approval
over the last decade. Paragon Biosciences provides financial support to smaller less well known
bio–tech and medical companies. Without the support of Paragon Biosciences, many new

Gattac Movie Analysis
In the science fiction film Gattaca, Marie and Antonio Freeman, parents of Vincent (the main
protagonist) walk into the doctor's office to design their second child. This is because want Vincent
to have a brother, someone to play with. Even though this opportunity is coming close to exist,
understanding the "good" and "bad" of making a baby can help decide whether or not to do it
yourself. There is the positive side of designing a baby. For instance, when the genetics are screened
and the embryo is, in the womb of the mother, fertilized, this can cause the prevention of genetic
disorders. This means disorders such as Down's Syndrome and Huntington's disease can be
"removed" and the future child can live a happier life. The result of this

Epidermolysis Bullosa Case Study
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 ... Show more content on Helpwriting.net ...
In one gene therapy study, scientists are investigating the use of a type of skin cell, keratinocytes to
see if they are a successful option to prevent the gene that expresses faulty keratin, from
successfully expressing. Another study shows that researchers have found a way to successfully
deliver cells that have been modified back into the living host (National Institute of Health, 2013).
This test has only been successfully done on mice so the results in human organisms are not
available. Scientists are now testing to see if this gene therapy will also work on humans and how
long the process lasts. Scientists are further exploring techniques that will help find the precise
moment when the gene mutates during development so that a possible development of a cure for EB
will be found in the future (National Institute of Health,

Child Has A Rare Genetic Disorder
Iris' eyes dilated with terror as she held her newborn. "My baby!" Iris wept. "What's wrong with my
baby?!"
Shriveled skin and huge oozing blisters plagued the baby 's entire body as it shrieked almost as loud
as Iris ' wailing.
"I 'm sorry, Ms. Macadamia, but your child has developed a rare genetic disorder,"
"––But it will go away...won 't it?! My baby won 't be a monster forever?"
"Ma 'am your child has butterfly syndrome. I 'm sorry."
"No! My precious baby! Can 't you fix it?! I 'd do anything!"
The doctors exchanged anxious glances.
"We could cocoon your baby...but not many babies have been cocooned yet––"
"Please! Please, anything!"
"Ms. Macadamia, this process is not entirely safe and we are unsure of ... Show more content on
Helpwriting.net ...
She knew this was what was right. This is what her husband would want her to do.
"Okay Ms. Macadamia. As long as your son is in his cocoon, you may visit him, but he will not be
conscious."
"Thank you. God bless you, Dr. Fern."
One week zipped by before Iris left the hospital, dewy–eyed. The next time she 'd be with her boy
he would be taller and heavier. He 'd have actual hair and longer fingers and bigger feet. But he
would be cured.
On her first visit a couple weeks later, she examined her child. His wounds from birth had
deceptively shrank, he had been released from his protective shelter, he would have many more

outbreaks. His genetic disorder would have to be completely out of his system in order to save him
from an abnormal life.
"Good morning, Ms. Macadamia," said a doctor with porcelain skin and diamond eyes. "Today I
have been assigned to show you how our cocoon works. It is required that anyone participating in an
experiment must understand exactly what they are doing."
Iris nodded, watching her baby, comatose in his safe–haven.
"In this machine, his DNA will be meticulously altered so that he no longer possesses the symptoms
of Epidermolysis Bullosa." Iris smiled. "But you do understand, he will be five years old by the time
the cocooning process is over."
"Yes, I would rather give him the life he deserves no matter the time it takes. '
"Okay, Ms. Macadamia. Today is the last day that you may have any

Epidermolysis Bullosa
BUTTERFLY CHILD 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

Describe Different Types Of EB
1.2 Subtypes of EB
There are three different types of EB. 1) Dystrophic EB (DEB), 2) Simplex EB (SEB) and 3)
Junctional EB (JEB). These conditions are either caused by autosomal dominant gene mutation or
autosomal recessive mutation. DEB can be caused by either of the genes. Another rare form of EB is
epidermolysis bullosa acquisita (EBA). It is an autoimmune disorder. This is when the body attacks
itself.EBA cannot be inherited. EB can be identified by friction blisters and from EBA.
1.2.1 EB Simplex
EB simplex is caused by an autosomal dominant gene mutation which results in faulty keratin
protein. Keratin is a protein that provides structure and strength for the skin. Keratin, therefore, acts
as a frame for the skin. So when this frame or scaffold is not formed properly the skin tends to fall
apart and form blisters. EB Simplex can be localized or generalised. This means that the blisters can
be localized, occurring only in the areas where friction or trauma has occurred. While with
generalized blistering, blisters can occur all over the body.
1.2.2 Junctional EB (JEB)
Junctional EB is an autosomal recessive condition. Widespread blisters occur. There is a chance of a
patient with this condition improving as they ... Show more content on Helpwriting.net ...
DEB also has two forms which are autosomal recessive and autosomal dominant. Autosomal
recessive dystrophic epidermolysis bullosa (RDEB) is caused as a result of mutations in both copies
of the gene. Both parents can transfer a damaged copy of the gene to a child despite neither of the
parents having this condition. In the case of autosomal dominance (DDEB), a faulty gene can be
inherited from one of the parents who can possibly have EB. A patient can also born with EB due to
sporadic gene mutation that is not inherited from either parent, it can occur due to an error occurring
in the child's DNA during foetal development. It is therefore important to note

My Career In Pharmacy
"I promise to devote myself to a lifetime of service to others through the profession of pharmacy"
was an oath I took two years ago when I graduated as a pharmacist from Jordan University of
Science and Technology, but the preparation to fulfill it started since my first day in undergrad
school, as my ultimate goal in life is to provide people with best health within my possibilities. In
order to be able to stand still behind my promise, I have been working hardly since then on my
education, personal traits and professional development. During my 5 years of undergrad studies, I
spent countless hours working hard to understand everything thoroughly and be the best in my
batch, I have been always in the top 1% of my class and graduated with honors as the 3rd best
student out of 332. However, for me that wasn't enough to attain my upcoming commitment as I
knew that having only good scores in college isn't going to build a forceful and professional
individual. Thus, regardless of living in a community with gender stereotypes that complexed my
life as a female, I was determined and strong enough to seek opportunities that will help my further
advancement. To do so, I managed to get several overseas internships during my undergrad studies
by myself without any help or recommendations from my professors, as such activities for
undergrads are extremely rare in our country. The aim of my first two internships as a volunteer was
to further grow personally through interacting with

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). ... Show more content on Helpwriting.net ...
Of the recorded US cases, most patients are afflicted with the simplex form of EB. Of the
approximately 10,000 cases, 600 are junctional EB, 600 are recessive dystrophic EB, 840 are
dominant dystrophic EB, and 320 of the cases don't fall under a known form ("Welcome to the
World..." 1). In Scotland, a study estimated the frequency of the disorder to be one in 20,400. In
other regions of the world, research estimates the prevalence to be one in 100,000 (Fallon

Raising Stores For Volunteer Funds
Charity shops were once associated with small Creations that were run by volunteers, dealt with
second hand goods, remained in the store for a few hours a day and serviced lower income sections
of the society. The charity commission defines a charity shop as "a shop which sells donated goods
where the income is used for a charitable purpose" (Lekhanya, 2006, p. 6) The essential aim of the
charity shop is to raise stores for volunteer funds. The essential working of these shops helps in
improvement of group life in different ways. Such shops stock second hand clothes and family
products that are given by individuals who do not have any further requirement for them. They are
normally staffed by unpaid volunteers from the neighbourhood group ... Show more content on
Helpwriting.net ...
(Anon., 2009, p. 3). Their main objective is to do a research finding that will help them one day to
cure the EB; this makes Debra the largest and worldwide network of nations for donations to EB.
Debra marketing skills are usually lead at the head office where they arrange fund raising events ,
help with sponsorship, have some tea gatherings, golf or any sport event to get money from the
donors , as well as run many selling shops selling donated items to protect the families from EB.The
Charity shop at Hatfield does not include any fund raising events, people usually recognize the shop
by word of mouth, or families who have been suffering from this disease and can even communicate
through their website, Facebook ,Twitter, YouTube and LinkedIn. 'Related marketing not only offers
a core marketing strategy for the future, but can also demonstrated business and indeed marketing at
its best. It provides marketing with the opportunity to achieve its best in business objectives whilst
at the same time benefiting a charity or good cause and making a positive impact on the society.'
(Baker, 2003, p. 693) . According to Alexander, he states that 'Planning is a process of human
thought and action based upon that thought.' (Alexander, 1992, p. 69). Planning is everything as a
result of it focuses your mind on what you wish to attain and why. The market of the charitable
organisation differs from marketing of profit organizations. In the profitable organization,

Keratin Disorder: Hereditary Skin Blistering: A Case Study
Basal Epithelial Keratin Disorder: Hereditary Skin Blistering
Keratin is a fibrous protein that functions as the main structural material in skin, hair and nails. This
protein consists of –helices coiled together with Van der Waal forces keep them together via
disulfide bonds, which makes it a strong structure. However, mutations/ manipulations introduced to
the protein can contribute to disorders within the human body.
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

Epidemosis Synthesis Paper
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

Epidermolysis Bullosa

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