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Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
with
mottled
pigmentation
is
a
rare
subtype
of
epidermolysis
bullosa
simplex
that
is
characterized
by
nonscarring
blistering
and
reticulated
hyperpigmentation
.
We
report
the
first
Slovenian
case
of
a
newborn
with
blisters
,
who
later
presented
with
hyperpigmented
macules
in
the
first
year
of
life
.
A
missense
p
.
Pro
25
Leu
mutation
in
the
KRT
5
gene
was
confirmed
.
Diseases
Validation
Diseases presenting
"mutation in the krt5 gene"
symptom
epidermolysis bullosa simplex
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