Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"who later presented with hyperpigmented macules in the first year of life"
symptom
epidermolysis bullosa simplex
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom