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[Neonatal hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report].
[dystrophic epidermolysis bullosa]
To
investigate
the
diagnostic
value
of
clinical
manifestations
,
pathologic
findings
of
skin
biopsies
and
genetic
testing
in
the
diagnosis
of
neonatal
hereditary
dystrophic
epidermolysis
bullosa
.
Here
we
reported
one
case
of
hereditary
dystrophic
epidermolysis
bullosa
with
neonatal
onset
,
and
explored
the
clinical
and
pathological
features
,
as
well
as
the
genetic
diagnosis
,
of
the
disease
process
.
The
neonate
was
born
with
large
areas
of
skin
damage
and
erosion
,
extending
to
the
left
ankle
and
foot
,
and
was
admitted
to
the
hospital
10
hours
after
birth
.
Hemophysallis
and
blisters
were
found
in
her
mouth
,
and
during
her
hospital
stay
the
patient
developed
multiple
bullae
,
skin
peeling
and
skin
erosion
at
the
compressed
and
friction
areas
of
the
body
.
Bacterial
cultures
from
both
the
skin
erosion
and
oral
secretions
were
negative
.
Pathology
of
the
skin
showed
a
small
amount
of
loose
connective
tissue
visualized
by
light
microscopy
.
Visualization
with
electron
microscope
revealed
no
basal
layer
in
the
majority
of
the
skin
,
tonofilament
scattered
in
the
dermal
tissue
,
and
basement
membrane
with
unclear
anchoring
fibril
and
thinner
lamina
densa
in
a
portion
of
the
region
studied
.
Consequently
,
the
diagnosis
of
dystrophic
epidermolysis
bullosa
was
made
.
COL
7
A
1
gene
tests
were
subsequently
performed
on
the
patient
's
family
.
Insertion
of
AGGG
fragment
was
found
at
the
500
th
locus
of
exon
13
in
the
mother
's
COL
7
A
1
gene
.
The
patient
's
father
had
a
G-
to
-
A
mutation
at
the
splicing
locus
after
exon
98
.
The
neonate
had
complex
heterozygous
mutation
in
COL
7
A
1
gene
consistent
with
the
father
and
mother
's
mutation
,
which
led
to
the
development
of
the
disease
.
The
parents
,
who
were
carriers
of
the
disease-causing
genes
,
both
had
a
normal
phenotype
.
Skin
pathology
was
indicated
for
the
diagnosis
of
clinically
suspicious
hereditary
dystrophic
epidermolysis
bullosa
.
The
microstructure
visualized
in
the
pathologic
findings
aided
in
making
the
preliminary
classification
,
and
further
genetic
testing
was
able
to
be
performed
according
to
the
pathological
classification
.
Genetic
testing
of
the
parents
could
greatly
aid
family
planning
in
the
future
.
Diseases
Validation
Diseases presenting
"tonofilament scattered in the dermal tissue"
symptom
dystrophic epidermolysis bullosa
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