epidermolysis bullosa is an inherited
connective tissue disease causing
blisters in the skin and mucous
membranes with an incidence of 1/50
thousand it is a result of a defect in
anchoring between the epidermis and
dermis resulting in friction and skin
fragility its severity ranges from mild
to lethal the condition was brought to
public attention in 2004 in the UK
through the channel full documentary the
boy whose skin fell off chronicling the
life and death of Johnny Kennedy an
Englishman with EB in the United States
the same could be said of the HBO
documentary my flesh and blood from 2003
butterfly children is a term often used
to describe younger patients as crystal
skin children classification
epidermolysis bullosa refers to a group
of inherited disorders that involve the
formation of blisters following trivial
trauma over 300 mutations have been
identified in this condition they have
been classified into the following types
epidermolysis bullosa simplex
epidermolysis bullosa simplex is a form
of epidermolysis bullosa that causes
blisters at the site of robbing it
typically affects the hands and feet and
is typically inherited in an autosomal
dominant manner affecting the keratin
genes KRT 5 and KRT 14 junctional
epidermolysis bullosa junctional
epidermolysis bullosa is an inherited
disease affecting laminin and collagen
this disease is characterized by blister
formation within the lamina lucida of
the basement membrane zone and is
inherited in an autosomal recessive
manner it also presents with blisters at
the site of friction especially on the
hands and feet and has variants that can
occur in children and adults less than
one per million people are estimated to
have this form of a pie de Melissa's
palooza dystrophic epidermolysis bullosa
district epidermolysis bullosa is an
inherited variant affecting the skin and
other organs
butterfly children is the term given to
those born with the disease as their
skin is seen to be as delicate and
fragile as a butterfly's wings
this trophic epidermolysis bullosa is
caused by genetic defects within the
human co l 7 a1 gene encoding the
protein type 7 collagen de b causing
mutations can be either autosomal
dominant or autosomal recessive other
genetic other
epidermolysis bullosa acquisitive
pathophysiology the human skin consists
of two layers an outermost layer called
the epidermis and a layer underneath
called a dermis in individuals with
healthy skin there are protein anchors
between these two layers that prevent
them from moving independently from one
another in people born with EB the two
skin layers lack the protein anchors
that hold them together resulting in
extremely fragile skin a euro even only
minor mechanical friction or trauma will
separate the layers of the skin and form
blisters and painful sores sufferers of
EB have compared the sores with
third-degree burns furthermore as a
complication of the chronic skin damage
people suffering from EB have an
increased risk of malignancies of the
skin treatment recent research is
focused on changing the mixture of
keratins produced in the skin there are
54 known keratin Gena's a euro of which
28 belong to the type I intermediate
filament jeans and 26 to type year euro
which work as heterodimers
many of these genes share substantial
structural and functional similarity but
they are specialized to cell type and
all conditions under which they are
normally produced if the balance of
production could be shifted away from
the mutated dysfunctional keratin gene
toward an intact keratin gene symptoms
could be reduced for example sulphur
feign a compound found in broccoli was
found to reduce blistering in a mouse
model to the point where affected pups
could not be identified visually when
injected into pregnant mice and applied
topically to newborns current clinical
research at the University of Minnesota
has included a bone marrow transplant to
a two-year-old child who is one of two
brothers with EB the procedure was
successful strongly suggesting that a
cure may have been found as
second transplant has also been
performed on the child's older brother
and a third transplant is scheduled for
a California baby the clinical trial
will ultimately include transplants to
30 subjects however the severe
immunosuppression that bone marrow
transplantation requires causes a
significant risk of serious infections
in patients with large scale blisters
and skin erosions indeed at least four
patients have died in the course of
either preparation for our institution
of bone marrow transplantation for
epidermolysis bullosa out of only a
small group of patients treated so far
epidemiology an estimated 50 and 1
million live births are diagnosed with
EB and 9 and 1 million sufferers are in
the general population of these cases
approximately 92% are epidermolysis
bullosa simplex 5% of this trophic
epidermolysis bullosa 1% are junctional
epidermolysis bullosa and 2% are
unclassified carrier frequency ranges
from 1 in 333 for Jeb to one in 450 for
de Bie the carrier frequency for EBS is
presumed to be much higher than Jeb or
de Bie the disorder occurs in every
racial and ethnic group throughout the
world and affects both sexes monitoring
the epidermolysis bullosa activity and
scarring index is a scoring system that
objectively quantifies the severity of
epidermolysis bullosa the BAC is a tool
for clinicians and patients to monitor
the severity of the disease it has also
been designed to evaluate the response
to new therapies for the treatment of EB
the Daisy was developed and validated by
Professor Dede Merle and her team of
students and fellows at the st. George
Hospital University of New South Wales
in Sydney Australia it was presented at
the international investigative
dermatology congress in edinburgh in
2013 and a paper-based version was
published in the journal of american
academy of dermatology in 2014 see also
deborah Johnny Kennedy references
external links radiograph showing a PI
demolishes bullosa gene
views UW NIH entry on epidermolysis
bullosa simplex epidermolysis bullosa
@dm o ZD dystrophic epidermolysis
bullosa Research Association of America