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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
.
Diseases
Validation
Diseases presenting
"nevus"
symptom
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
kabuki syndrome
lamellar ichthyosis
liposarcoma
malignant atrophic papulosis
oculocutaneous albinism
proteus syndrome
sneddon syndrome
This symptom has already been validated