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Epidermolysis Bullosa

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A person with Epidermolysis Bullosa will have many blisters and may walk slowly ... These include: avoiding overheating by keeping rooms at an even temperature ... – PowerPoint PPT presentation

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Title: Epidermolysis Bullosa


1
Epidermolysis Bullosa
  • By Chelsie Churchill

2
Image Of Epidermolysis Bullosa

3
Over View of Epidermolysis Bullosa
  • A person with Epidermolysis Bullosa will have
    many blisters and may walk slowly due to pain.
  • One's physical appearance can also be seriously
    affected by scarring. People with EB usually have
    decayed teeth, missing toe or finger nails and
    many painful blisters surrounding the body.

4
Heredity Epidermolysis Bullosa
  • An estimated 2 out of every 100,000 live births
    are affected with some type of EB. The disorder
    occurs in every racial and ethnic group
    throughout the world and affects both sexes
    equally.
  • There are four main forms of EB.
  • Epidermolysis bullosa simplex
  • Junctional epidermolysis bullosa
  • Dystrophic epidermolysis bullosa
  • Hemidesmosomal epidermolysis bullosa
  • In an autosomal dominant form of EB, the disease
    gene is inherited from only one parent who has
    the disease, and there is a 50 percent (1 in 2)
    chance with each pregnancy that a baby will have
    EB.


5
Medical Epidermolysis Bullosa
  • Dermatologists can identify where the skin is
    separating to form blisters and what kind of EB a
    person has by doing a skin biopsy (taking a small
    sample of skin that is examined under a
    microscope).
  • The major sign of all forms of EB is fragile skin
    that blisters, which can lead to serious
    complications. For example, blistering areas may
    become infected, and blisters in the mouth or
    parts of the gastrointestinal tract may interfere
    with proper nutrition. Other signs may include
    thickened skin on the palms of the hands and
    soles of the feet rough, thickened, or absent
    fingernails or toenails and blistering of the
    soft tissues inside the mouth. Less common signs
    include growth retardation blisters in the
    esophagus anemia (a reduction in the red blood
    cells that carry oxygen to all parts of the
    body) scarring of the skin and milia, which are
    small white skin cysts. In the most serious
    forms, large, ulcerated blisters on the face,
    trunk, and legs can be life-threatening due to
    complicated infections and loss of body fluid
    that leads to severe dehydration. In some
    dominant and mild recessive forms, blisters may
    appear only on the hands, feet, elbows, and
    knees nails usually are shaped differently
    milia may appear on the skin of the trunk and
    limbs and there may be involvement of the soft
    tissues, especially the esophagus.
  • The majority of these patients die before the age
    of 30, either of SCC or complications related to
    DEB.
  • Recommendations might include regular whirlpool
    therapy and application of topical antibiotics to
    these wound-like areas.
  • However, they should attempt to keep blisters
    from forming and prevent infection when blisters
    occur. A number of things can be done to protect
    the skin from injury. These include?avoiding
    overheating by keeping rooms at an even
    temperature?applying lubricants to the skin to
    reduce friction and keep the skin moist?using
    simple, soft clothing that requires minimal
    handling when dressing a child?using sheepskin on
    car seats and other hard surfaces?wearing mittens
    at bedtime to help prevent scratching

6
Personal Life of a Person With Epidermolysis
Bullosa
  • The everyday life of someone with Epidermolysis
    Bullosa is painful emotionally and physically.
    Things we may do daily such as sitting down,
    standing up, and laying down can be painful
    because the body will be covered with blisters.
    People with EB always need to cover up there skin
    with a special kind of cloth usually referred to
    as a dressing. 90 of people with EB die in their
    first year of life. People with EB have to eat
    through feeding tubes because of some internal
    blistering on the esophagus. Dressing in and out
    of clothes is difficult because the clothes may
    stick to the cloth.
  • The major sign of all forms of EB is fragile skin
    that blisters, which can lead to serious
    complications. For example, blistering areas may
    become infected, and blisters in the mouth or
    parts of the gastrointestinal tract may interfere
    with proper nutrition.
  • Researchers are very optimistic about the
    possibility of developing treatments as knowledge
    of EB increases. EB is currently an incurable
    condition. There is no effective treatment for
    EB.

7
Pictures of Epidermolysis Bullosa
8
Epidermolysis Bullosa References
  • http//en.wikipedia.org/wiki/Epidermolysis_bullosa
  • http//www.niams.nih.gov/hi/topics/epidermolysis_b
    ullosa/epidermolysis_bullosa.htm
  • http//www.nlm.nih.gov/medlineplus/ency/article/00
    1457.htm
  • http//www.debra-international.org/kittz/disease/s
    ymp.htm
  • www.medlib.med.utah.edu
  • www.patient.co.uk
  • http//www.ebanusa.org/ditlbrenda.htm
  • http//www.debracanada.org/whatiseb.htmlIs20ther
    e20a20cure
  • www.ades.tmu.edu.tw.com
  • www.niams.nih.gov.com

9
Hunter Syndrome by Wesley Wang
10
Heredity hunter syndrome
  • There are estimated to be approximately 2,000
    people afflicted with Hunter Syndrome worldwide,
    500 of which live in the United States.
  • This means that a child who has a parent with a
    mutation has a 50 percent chance ofinheriting
    that muta- tion. This mutation increases the risk
    of developing the cancer specific to this
    mutation.
  • Hunter syndrome (MPS II) affects at least 1 in
    162,000 people. Since Hunter syndrome is an
    inherited disorder (X-linked recessive) that
    primarily affects males, it is passed down from
    one generation to the next in a specific way.

11
Hunter Syndrome References
  • http//en.wikipedia.org/wiki/Hunter_syndrome
  • http//www.michigancancer.org/PDFs/MichBCCCPNews/M
    ichBCCCPNewsl-ClinicalUpdateInsert-Oct05.pdf
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