Epidermolysis Bullosa

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Epidermolysis Bullosa

• By Chelsie Churchill

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Image Of Epidermolysis Bullosa

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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.

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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.

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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

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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.

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Pictures of Epidermolysis Bullosa
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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

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Hunter Syndromeby Wesley Wang
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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.

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Hunter Syndrome References

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