Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Epidermolysis bullosa in animals: a review.
[dystrophic epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
is
a
hereditary
mechanobullous
disease
of
animals
and
humans
,
characterized
by
an
extreme
fragility
of
the
skin
and
mucous
membranes
.
The
main
feature
of
EB
in
humans
and
animals
is
the
formation
of
blisters
and
erosions
in
response
to
minor
mechanical
trauma
.
Epidermolysis
bullosa
is
caused
by
mutations
in
the
genes
that
code
for
structural
proteins
of
the
cytoskeleton
of
the
basal
keratinocytes
or
of
the
basement
membrane
zone
.
Based
on
the
ultrastructural
levels
of
tissue
separation
,
EB
is
divided
into
the
following
three
broad
categories
:
epidermolysis
bullosa
simplex
,
junctional
epidermolysis
bullosa
and
dystrophic
epidermolysis
bullosa
.
Human
types
of
EB
are
divided
into
several
subtypes
based
on
their
ultrastructural
changes
and
the
mode
of
inheritance
;
subtypes
are
not
fully
established
in
animals
.
In
humans
,
it
is
estimated
that
EB
affects
one
in
17
,
000
live
births
;
the
frequency
of
EB
in
different
animals
species
is
not
known
.
In
all
animal
species
,
except
in
buffalo
with
epidermolysis
bullosa
simplex
,
multifocal
ulcers
are
observed
on
the
gums
,
hard
and
soft
palates
,
mucosa
of
the
lips
,
cheek
mucosa
and
dorsum
of
the
tongue
.
Dystrophic
or
absent
nails
,
a
frequent
sign
seen
in
human
patients
with
EB
,
corresponds
to
the
deformities
and
sloughing
of
the
hooves
in
ungulates
and
to
dystrophy
or
atrophy
of
the
claws
in
dogs
and
cats
.
This
review
covers
aspects
of
the
molecular
biology
,
diagnosis
,
classification
,
clinical
signs
and
pathology
of
EB
reported
in
animals
.
Diseases
Validation
Diseases presenting
"absent nails"
symptom
dystrophic epidermolysis bullosa
This symptom has already been validated
