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Genotype-oropharyngeal phenotype correlation in Mexican patients with dystrophic epidermolysis bullosa.
[dystrophic epidermolysis bullosa]
Previous
investigations
have
attempted
to
correlate
the
genotype
with
the
cutaneous
phenotype
in
patients
with
epidermolysis
bullosa
(
EB
)
,
but
never
with
the
oropharyngeal
phenotype
.
Seventeen
dystrophic
EB
(
DEB
)
patients
were
genotyped
for
COL
7
A
1
gene
mutations
and
divided
into
five
distinct
groups
.
Oropharyngeal
disease
severity
was
assessed
with
the
Epidermolysis
Bullosa
Oropharyngeal
Severity
(
EBOS
)
score
by
an
oral
medicine
specialist
.
The
genotype-phenotype
correlation
was
calculated
by
Kruskal-
Wallis
analysis
of
variance
using
the
Mann-
Whitney
test
,
applying
the
Bonferroni
correction
.
The
most
severe
oropharyngeal
phenotype
was
found
in
the
group
with
the
2470
insG
/
3948
insT
mutation
,
with
a
mean
disease
severity
score
of
18
.
50
±
2
.
12
;
the
mildest
was
found
in
the
6862
del
16
mutation
group
,
with
a
mean
disease
severity
score
of
0
.
57
±
1
.
13
.
The
most
significant
difference
in
median
score
was
found
in
the
total
score
(
P
=
0
.
009
)
,
followed
by
tongue
(
P
=
0
.
02
)
and
upper
lip
(
P
=
0
.
021
)
,
but
no
correlation
was
found
between
disease
severity
and
the
groups
(
P
>
0
.
005
,
after
Bonferroni
correction
)
.
Multiple
comparisons
among
the
five
different
genotypic
groups
revealed
no
statistically
significant
genotype-oropharyngeal
phenotype
correlation
;
it
was
not
possible
to
establish
which
group
was
more
severe
,
or
to
associate
a
specific
mutation
to
a
specific
oropharyngeal
phenotype
.
Diseases
Validation
Diseases presenting
"upper lip"
symptom
cohen syndrome
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
monosomy 21
pyruvate dehydrogenase deficiency
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