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Lethal acantholytic epidermolysis bullosa.
[epidermolysis bullosa simplex]
Lethal
acantholytic
epidermolysis
bullosa
(
LAEB
)
is
an
autosomal
recessive
disorder
caused
by
mutations
in
the
gene
encoding
the
desmosomal
protein
,
desmoplakin
(
DSP
)
.
It
is
recognized
as
a
distinct
form
of
suprabasal
epidermolysis
bullosa
simplex
,
although
only
a
single
case
has
been
reported
.
The
phenotype
comprises
severe
fragility
of
skin
and
mucous
membranes
with
marked
transcutaneous
fluid
loss
.
Other
features
include
total
alopecia
,
neonatal
teeth
,
and
anonychia
.
Skin
biopsy
reveals
abnormal
desmosomes
with
suprabasal
clefting
and
acantholysis
and
disconnection
of
keratin
intermediate
filaments
from
desmosomes
.
The
DSP
abnormalities
present
in
the
affected
individual
involved
expression
of
truncated
DSP
polypeptides
that
lacked
the
tail
domain
of
the
protein
.
This
part
of
DSP
has
a
vital
role
in
binding
to
keratin
filaments
.
The
affected
neonate
died
after
10
days
because
of
heart
failure
with
evidence
of
loss
of
epithelial
integrity
in
the
skin
,
lung
,
gastrointestinal
tract
,
and
bladder
.
This
article
provides
a
clinicopathologic
overview
of
this
unique
desmosomal
genodermatosis
,
set
in
the
context
of
other
DSP
gene
mutations
,
both
dominant
and
recessive
,
that
can
cause
a
spectrum
of
skin
,
hair
,
and
heart
abnormalities
.
Diseases
Validation
Diseases presenting
"heart abnormalities"
symptom
22q11.2 deletion syndrome
congenital diaphragmatic hernia
epidermolysis bullosa simplex
erythropoietic protoporphyria
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