Epidermolysis

Bullosa

Biology 3370
July 22, 2014

Courtney S. Zahn

Epidermolysis Bullosa (EB)

(ep-ih-dur-MOL-uh-sis buhl-LO-sah)
The Butterfly Disease and The Butterfly Children

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

People with mild forms of the

disease can develop signs and
symptoms later in life.

Physical activities such as

learning to walk can sometimes
result in the first symptoms.
Both genders and all ethnic
groups are affected equally.

Gen
eral
over
view
of
EB

Signs and Symptoms

Primary Indication of EB:
Eruption of fluid-filled blisters on the skin
Commonly on the hands and feet in response to friction
Blisters can also develop in other areas, depending on the type of EB.
Blisters heal without scarring in mild cases.

Signs and Symptoms

Blisters of the skin

Deformity/loss of fingernails and
toenails

Internal blistering, including on the

throat, esophagus, upper airway,
stomach, intestines and urinary tract
Hyperkeratosis - skin thickening on
palms and soles

Excessive sweating
Dysphagia - difficulty swallowing

Scarring alopecia - scalp blistering,

scarring and hair loss

Atrophic scarring - thin-appearing

skin
Milia tiny white skin bumps/
pimples
Dental abnormalities, including
tooth decay due to poorly formed
tooth enamel

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 - Modes of Inheritance

Autosomal Dominant
Inheritance
One parent carries the
gene for EB and is
affected by (expresses)
the condition.
50 % chance with each
pregnancy of
transmitting the
abnormal gene.
Sex of child and birth
order do not make a
difference.

Causes - Modes of Inheritance

Autosomal Recessive Inheritance
Both parents are carriers of the
gene for EB, but are unaffected by
(do not express) the condition.
Parents are usually unaware they
are carriers.
25 % chance with each pregnancy
that their children will have the
disorder.
Sex of child and birth order do not
make a difference.
A person with a recessive form of
EB will only be at risk of having an
affected child if their partner is a
carrier/has recessive EB.

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.

How common is EB?

20 newborns per 1 million live births in U.S. (National

Epidermolysis Bullosa Registry)
Approximately 25,000 - 50,000 people in the United
States have EB.

Equally effects both genders and all ethnic groups.

4 Types:
1. Epidermolysis bullosa simplex (EBS)
2. Junctional epidermolysis bullosa (JEB)
3. Dystrophic epidermolysis bullosa (DEB)
4. Epidermolysis bullosa acquisita (EBA)

Epidermolysis bullosa simplex (EBS)

Most common form of EB (70%)
Usually fairly mild.
Begins at birth/early infancy.
Often mainly affects palms and soles.
Autosomal dominant gene
Faulty genes involved in keratin
production.
Keratin - fibrous protein in the top
layer of skin.

Causes epidermis layer of skin to

split, resulting in blisters usually
do not form scars.
Can often lead relatively normal
lives.

Junctional epidermolysis bullosa (JEB)

Severe form of EB which is apparent at birth least common form (5 %)

Autosomal recessive inheritance pattern
The faulty genes are involved in the formation of anchoring filaments called
hemidesmosomes fibers that attach the epidermis to the basement membrane.
Tissue separation and blistering in occur in the basement membrane zone.
Severe forms of JEB can lead to death before age 2 due to internal blistering,
anemia, malnutrition, etc.

WEDNE
SDAY,
SEPTE
MBER
7,
2011
"a day
in
Tripp's
life.
written
by
Courtn
ey
Roth

Tripp doesn't know a day without

pain. He wakes up in pain, he goes to
bed in pain. He starts the day with a
painful diaper change, while he cries
so hard that he struggles to breathe
and has to be suctioned usually more
than once during one diaper change.
He then goes straight into the rocking
chair into our arms (with us knowing
that we better not even stop to grab
something off of the table or we are
getting "fussed").
He rocks the entire day, with maybe a
few minutes of playtime here or there
a couple of times a day (if we are
lucky). He has lost his eyesight due to
blisters that have formed and scarred
over his eyeballs.
He never gets to do the things that
normal children can do because he
can't speak, see, walk, or even go
outside.

WEDNES
DAY,
SEPTEM
BER 7,
2011
"a day in
Tripp's
life.
written
by
Courtne
y Roth

He has to have a bath and dressing

change every other day that causes
him extreme pain and anxiety. He
knows this is coming and usually
dreads it for half of the day
worrying about when we are going
to pick him up and undress him.
If it's humid outside, his trach is
usually better, but we do a lot of
suctioning. If its dry out, his trach
stays dry and he has trouble
breathing even with his humidifier
on.
He eats by me shoving food into his
stomach with a tube. He wants to
eat by mouth, and will try
occasionally, but usually takes one
bite and decides that it hurts so
much that he doesn't want another.

WEDNESD
AY,
SEPTEMBE
R 7, 2011
"a day in
Tripp's
life.
written by
Courtney
Roth

He has over 20 teeth that

he's had for over 2 years
that have never once been
brushed.
He has sores all over his
entire mouth and tongue
from his teeth rubbing (just
like if his skin is rubbed).
OH, and his body is covered
in raw, deep wounds that
never heal and he has to
stay wrapped in thick
bandages every second of
the day, with pounds of
Aquaphor underneath
those "already suffocating"
dressings.
EBing a Mommy Blog
- Courtney Roth

Dystrophic epidermolysis bullosa (DEB)

Mild to severe
25 % of EB
Apparent at birth or during early
childhood
Faulty genes are involved in the
production of type VII collagen.
Collagen - strong protein in the fibers that
hold the deepest, toughest layer of your
skin together.
Fibers are missing or nonfunctional.

Can be either dominant or recessive.

Arm and hand contractures, internal
blistering, fusion of fingers and toes,
possibility of skin cancer at early age.

Epidermolysis bullosa acquisita (EBA)

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

Tests and Diagnosis

Laboratory Tests are
required for
Diagnosis.
Skin biopsy.
Examine small skin
sample under microscope
to reveal which layer of
skin is separating and
therefore the type of EB
present.

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.

Prevention and Care

Prevention of EB is not possible.
The goal is to prevent the
blisters from forming by
handling your child gently.
Keep the childs skin lubricated.
Be careful when applying
dressings and avoid adhesive
bandages or tape.
Avoid hard surfaces and rough
materials.
Trim childs fingernails
regularly.
Keep the temperature in your
home cool and steady.

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

Epidermolysis Bullosa. Medline Plus. (11/20/2012). Retrieved from.

http://www.nlm.nih.gov/medlineplus/ency/article/001457.htm

Epidermolysis Bullosa Clinic Frequently Asked Questions. Stanford

School of Medicine Dermatology. (2014). Retrieved from http://
dermatology.stanford.edu/gsdc/eb_clinic/eb-faqs.html

Diseases and Conditions Epidermolysis Bullosa. Mayo Clinic.

(8/27/2011). Retrieved from
http://www.mayoclinic.org/diseases-conditions/epidermolysis-bullo
sa/basics/prevention/con-20032497

Roth, Courtney. (9/7/2012). "a day in Tripp's life. [EBing a Mommy

Blog]. Retrieved from http://randycourtneytripproth.blogspot.com/

What is EB?. The Dystrophic Epidermolysis Bullosa Research

Association of America. (2014). Retrieved from
http://www.debra.org/whatiseb