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Bullosa
Biology 3370
July 22, 2014
Courtney S. Zahn
What is EB?
- Rare group of disorders
in which the skin blisters
in reaction to minor
injury, heat, or friction
- Four main types
(multiple subtypes)
- Most types are
inherited.
Who is affected?
Infants and young children
Adolescence and early
adulthood
Gen
eral
over
view
of
EB
Excessive sweating
Dysphagia - difficulty swallowing
Causes of EB
EB is usually inherited.
2 modes of inheritance
Can be caused by random mutation.
Over 10 known genes associated with EB
Genes involved in EB and their
correlating chromosome locations:
Gene
COL7a1
KRT5
KRT14
ITGB4
ITGA6
PLEC1
AMB3
LAMC2 1
LAMA3
COL17A1
Chromosome
3
12
17
17
2
8
1
18
10
Location
3p21.3
12q13
17q12-q21
17q11-qter
2
8q24
1q32
1q25-q31
18q11.2
10q24.3
Causes
Spontaneous Mutation
Not inherited neither parent has
EB
Child has autosomal dominant
form of EB.
Caused by a change/mutation in
the genetic material of the
egg/sperm.
The affected child will have 50:50
risk of passing the gene on in
his/her pregnancies.
Parents of infected child will not
have a risk of passing the gene to
other offspring.
4 Types:
1. Epidermolysis bullosa simplex (EBS)
2. Junctional epidermolysis bullosa (JEB)
3. Dystrophic epidermolysis bullosa (DEB)
4. Epidermolysis bullosa acquisita (EBA)
WEDNE
SDAY,
SEPTE
MBER
7,
2011
"a day
in
Tripp's
life.
written
by
Courtn
ey
Roth
WEDNES
DAY,
SEPTEM
BER 7,
2011
"a day in
Tripp's
life.
written
by
Courtne
y Roth
WEDNESD
AY,
SEPTEMBE
R 7, 2011
"a day in
Tripp's
life.
written by
Courtney
Roth
Rare type of EB
Not inherited
Blistering is caused by the immune system mistakenly attacking healthy tissue
autoantibodies attack type VII collagen results in a reduction of normal
anchoring fibrils to hold the epidermis to the dermis
Similar to another immune system disorder - bullous pemphigoid
Associated with Crohns Disease inflammatory bowel disease
May result in nail loss, milia, and scars.
Complications
Secondary skin
infection
Sepsis
Deformities
Malnutrition
Anemia
Eye disorders
Skin cancer Squamous
Cell Carcinoma (SCC)
Death
Constricted esophagus
Hoarse voice
Genetic testing.
Blood samples can be sent
to the lab for analysis to
determine the diagnosis.
Treatment
Skin care to prevent discomfort
and infection from blisters.
Puncture blisters.
Soak wounds with disinfectant.
Surgery to correct deformities
such as fusing of the fingers and toes
and contractures.
Surgery to dilate the esophagus.
Implantation of a gastrostomy
tube for improved nutrition and
weight gain.
Physical therapy
Gene replacement, bone marrow transplantation,
and recombinant protein therapies are being studied
intensively as better ways to treat/relieve the symptoms of EB.
A SPECIAL CHILD
You werent like other children,
And God was well aware,
Youd need a caring family,
With love enough to share.
And so He sent you to us,
And much to our surprise,
You havent been a challenge,
But a blessing in disguise.
Your winning smiles and laughter,
The pleasures you impart,
Far outweigh your special needs,
And melt the coldest heart.
Were proud that weve been chosen,
To help you learn and grow,
The job that you have brought us,
Is more than you can know.
A precious gift from Heaven,
A treasure from above,
A child whos taught us many things,
But most of all- Real Love
References