epidermolysis bullosa (eb) megan cousins & molly mcmahon

Epidermolysis Bullosa (EB)

Megan Cousins & Molly McMahon

How does a person inherit EB? Is it dominant or recessive?

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. 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?

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?

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?

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? How is EB diagnosed?

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.

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Cont.Cont.

Dystrophic EB (DEB): 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:

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.Cont.

Junctional EB (JEB): 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)







What are the physical symptoms of the disease?

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.

In the most severe cases, these blisters leave permanent 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.





What is the life expectancy?

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?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/researchNew 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

PersonalPersonal

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.Cont.

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.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

OrganizationsOrganizations

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

There is also NORD, the National Organization for Rare Diseases www.rarediseases.org

CuresCures

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 Sources

http://www.internationalebforum.org/index.php?id=11

http://www.debra.org/modules.php?op=modload&name=News&file=article&sid=12

http://www.gig.org.uk/genesandyou_EB.htm

epidermolysis bullosa (eb) megan cousins & molly mcmahon

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