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Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation.
[epidermolysis bullosa simplex]
We
report
herein
a
4
-
year
-old
girl
with
Dowling-
Meara
type
epidermolysis
bullosa
(
EB
)
who
presented
with
peculiar
pigmented
nevi
.
Blister
formation
had
repeatedly
occurred
on
the
erythematous
plaques
in
a
circinate
fashion
since
birth
,
and
marked
hyperkeratosis
was
observed
on
the
palms
and
soles
associated
with
nail
deformity
.
Her
mother
and
maternal
grandmother
also
had
similar
symptoms
.
In
addition
to
the
blistering
lesions
,
the
patient
had
three
large
,
asymmetrical
,
pigmented
plaques
with
color
variegation
.
Light
and
electron
microscopic
findings
of
the
blistering
lesions
showed
a
subepidermal
blister
with
intracytoplasmic
granules
in
keratinocytes
as
well
as
degeneration
of
basal
cells
and
aggregation
of
tonofilaments
.
The
pigmented
lesions
revealed
histopathological
features
of
compound
nevus
without
malignant
changes
.
Gene
analysis
revealed
an
E
478
K
(
Glu
to
Lys
)
mutation
in
exon
5
of
the
keratin
5
(
K
5
)
gene
.
These
findings
,
together
with
clinical
features
,
were
consistent
with
those
of
Dowling-
Meara
type
EB
associated
with
so
-called
EB
nevus
.