Transcript Epidermolysis Bullosa (EB)

Epidermolysis
Bullosa (EB)
Megan Cousins & Molly
McMahon
How does a person inherit EB?
Is it dominant or recessive?

EB is neither infectious nor contagious, the only way
someone can obtain the disease is genetically through their
parents

There are two ways that the disease can be passed on from a
parent:

The first is during a pregnancy, the mother can pass the disease on to
her child if she has the disease.
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If she has the disease, there is only a one in two chance the child will have
the form of EB that the mother has.
The other means of transmission is either dominant of recessive
inheritance, depending on the form of EB.
 If the parent is dominant, then every child will have a fifty-fifty chance of
inheriting the disease.
 If the gene is recessive, both the parents must be carriers of the gene, but not
actually affected by it.
 In this case, there is a one in four chance that the child will have the disease,
and half a chance that the child will be an unaffected carrier.
What are the possible genotypes
of the parents?
 EB is not a chromosomal abnormality
 It is a spontaneous genetic mutation which took place in
the egg or sperm before fertilization
 If a child has the disease, the parents are either both
carriers but no not have the disease (Ee x Ee)
 OR
 one of the parents has the disease and one is a carrier (ee
x Ee).
How prevalent is the disease in
the population?
 It is estimated that 1 out of every 50,000 live births
are affected with some form of EB. Every race and
sex is affected equally.
What are the chances of a
person with this disease passing
the disease to their offspring?
 If a mother has the disease, there is a 1 in 2 chance the child will
inherit EB
 If one parent is dominant (Ee) there is a 50/50 chance of each
offspring inheriting EB
 If both parents have the recessive gene (ee) there is a 1 in 4
chance the child will be affected
 If both parents have the recessive gene (ee) there is a 50/50
chance the child will be a unaffected carrier
How is EB diagnosed?
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EB is diagnosed when a person exhibits the symptoms of any of
these three main types: EB Simplex, Dystrophic EB (dominant or
recessive form) and Junctional EB
Symptoms:

EB Simplex
 Blisters develop mainly on a child’s: hands (usually on the palms), and feet
(usually on the soles)
 Symptoms may include excessive sweating on the hands and feet
(hyperhidrosis)
 Blistering affects skin that is constantly rubbed, for example, by clothes, or
the edges of a nappy. There may also be blisters inside the mouth
 The blisters usually heal without leaving scars. Warm weather, heat and
humidity can make the blistering worse.
Qui ckT ime™ and a
T IFF (Uncompres sed) decompres sor
are needed to s ee this picture.
Cont.
 Dystrophic EB (DEB):
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Qui ckT ime™ and a
T IFF (Uncompres sed) decompres sor
are needed to s ee this picture.
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Symptoms of DEB can vary widely, and they can be mild to severe. In
some forms of DEB, blisters may only affect part of the body
(localized).
In other forms of DEB, the blistering can be much more widespread
(generalized).
Dominant inheritance causes the blisters and scarring may be limited
to the child’s:
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Qui ckT ime™ and a
T IFF (Uncompres sed) decompres sor
are needed to s ee this picture.
Hands
Feet
Knees
Elbows
Recessive inheritance the condition tends to be more severe. The
blisters and scarring can affect a baby’s whole body:
 at birth, or during the first few weeks of life.
 extensive blistering and scarring also occurs
 and complications, such as problems with the digestive system and the
kidneys
Cont.
 Junctional EB (JEB):
Quic kT ime™ and a
T IFF (Uncompress ed) decompress or
are needed to s ee this pi cture.
 As with DEB, the symptoms of JEB can vary.
 The symptoms of some forms of JEB can be mild, whereas
other forms can be severe. Blisters and fragile skin can affect
only part of the body, or they can be very widespread.
 Herlitz JEB is a severe, life-threatening form of the condition.
 As well as extensive loss of skin, Herlitz JEB causes many
complications, including breathing difficulties and anaemia
(iron deficiency)
QuickT i me™ and a
T IFF (Uncompressed) decompressor
are needed to see this pi cture.
Quic kTime™ and a
TIFF (Unc om pres s ed) dec ompres s or
are needed to s ee t his pict ure.
What are the physical
symptoms of the disease?
 In general, EB causes blisters due to touching everyday
objects that can be either subject to one area or over a
large part of the body.
QuickT ime™ and a
 In the most severe cases, these blisters leave permanent
T IFF (Uncompressed) decompressor
are needed to see thi s pi cture.
damage to the skin, whereas in less severe cases the skin
will heal normally.
 In bad cases, fingers may fuse together, for example, and
hands contract limiting movement. Some forms of EB are
fatal
 Since the skin is so sensitive, blistering and scarring is
both extremely common, and hard to heal.
QuickT ime™ and a
T IFF (Uncompressed) decompressor
are needed to see thi s pi cture.
What is the life
expectancy?
 Babies born with Junctional EB have a life expectancy of 2
years
 People with EB Simplex have the possibility to live a full life,
but also restricted by the condition
 A certain life expectancy cannot be put on people with EB
because many complications may arise from the disease
How can EB be treated?
 The goal of treatment is to prevent the formation of blisters
and subsequent complications.
 Treatment is dependent on how severe the condition is
 Recommendations often include measures to avoid skin
trauma (damage) and to avoid hot environments.
 Most patients try to relieve the extreme pain that they are
always in
 Preventing infection is also necessary
 There is protein and gene therapy
 And skin grafting to try and restore the missing proteins
 Physical therapy to make sure that joints do not get stiff
 Proper nutrition
 There is nothing known to relieve the symptoms
New treatments/research
 Stem Cells may be a possible cure for EB
 Since EB is a mutation in the genes there are no outside
treatments that are known to cure the disease
 What is most heavily researched is what to do to relieve the
symptoms and the pain
Personal
We interviewed a 11 year old girl who goes to Platt Middle School and
has EB. She wears protective pads around her arms and legs to keep
from rubbing against walls and other children. She has a automatic
wheelchair because she cannot walk due to recent surgeries.
Here is an overview of the interview:
Q:What is your favorite subject in school?
A: Choir and LA
Q: Is it hard coming to school and being around peers?
A: Sometimes yes, but most kids are used to it. The hardest thing is not
being included because they are almost scared to hurt me
Q: What is your favorite thing to do outside of school?
A: Read, I just finished White Fang
Q: What is one word you would use to describe yourself?
A: Weird
Cont.
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Q: Are kids at school supportive of your condition?
A: No, but I really just want to fit in.
Q: Where do you go for treatment? Special Clinic? Hospital?
A: Children’s Hospital in Denver.
Q: What types of doctors do you have?
A: Physical Therapy, Main Doctor, Skin Doctor, Bone Doctor, Nutritionist
Q:Do you ever get a chance to be around other kids with EB?
A: Ya. There is this camp in Pennslyvania that I go to, which is un because
everybody knows what we’re going through. So that’s fun. And then I have
a group of friends at Children’s and our doctors sometimes take us on cool
trips, like we went to the Rockies game once.
Q:What helps to relieve the pain?
A: Baths with epsom salt help a lot, and motrin
Cont.
 When talking to this 11 year old girl it was hard not to feel bad
that everytime you run into a chair your skin doesn’t rip, but she
has so much courage
 Besides the fact that it hurts to walk and she cant play sports she
tries as hard as she can to be normal
 With the help of doctors, kids with EB can still have chances to
go on ski trips and summer camps
 She is very limited to her wheel chair because of the risk of
damage to her butterfly like skin
 She wears pads to avoid any type of accidental bumps
 She has a drive to be normal, which is why she eats lunch with
her peers in the cafeteria so that she can be apart of the middle
school experience
Organizations
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There is a non profit organization called DEBRA (Dystrophic Epidermolysis
Bullosa Research Association) which his dedicated to finding a cure for
EB. www.debra.org
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There is also NORD, the National Organization for Rare Diseases
www.rarediseases.org
Cures
 There are no cures for this condition, and it is unlikely that a
cure will be found soon because it is a genetic mutation that
occurs in the parents
Sources
 http://www.internationalebforum.org/index.php?id=11
 http://www.debra.org/modules.php?op=modload&name=N
ews&file=article&sid=12
 http://www.gig.org.uk/genesandyou_EB.htm