Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Autosomal dominant junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
encompasses
a
heterogeneous
group
of
inherited
skin
disorders
associated
with
trauma-induced
blistering
.
The
junctional
forms
of
EB
(
JEB
)
,
Herlitz
JEB
,
non-
Herlitz
JEB
and
JEB
associated
with
pyloric
atresia
have
all
been
attributed
to
autosomal
recessive
inheritance
.
We
describe
a
7
-
year
-old
girl
with
defective
dental
enamel
,
trauma-induced
blistering
and
subsequent
scarring
.
Her
mother
,
a
carrier
of
the
mutation
p
.
G
627
V
in
the
collagen
XVII
gene
(
COL
17
A
1
)
had
evidence
of
hypoplastic
dental
enamel
without
skin
blistering
.
Her
grandmother
had
non-
Herlitz
JEB
as
a
result
of
a
compound
heterozygous
mutation
in
COL
17
A
1
(
p
.
G
627
V
and
c
.
3514
ins
25
)
.
To
explore
the
molecular
,
ultrastructural
and
immunofluorescence
findings
of
the
first
case
of
dominant
JEB
.
Mutational
analysis
of
COL
17
A
1
was
performed
on
the
proband
's
genomic
DNA
.
In
addition
,
transmission
electron
microscopy
and
immunofluorescence
microscopy
were
performed
on
a
nonlesional
skin
biopsy
from
the
proband
and
an
unrelated
healthy
control
.
Direct
sequencing
revealed
a
heterozygous
glycine
substitution
mutation
,
p
.
G
627
V
,
in
COL
17
A
1
.
No
discernible
morphological
abnormalities
were
found
on
transmission
electron
microscopy
;
however
,
immunofluorescence
microscopy
revealed
findings
of
an
altered
distribution
pattern
for
type
XVII
collagen
epitopes
close
to
the
dermal-epidermal
junction
.
T
his
report
describes
the
first
case
of
dominant
JEB
.
Although
some
heterozygous
mutations
in
COL
17
A
1
are
known
to
cause
dental
abnormalities
none
were
associated
with
skin
fragility
.
The
dominant-negative
interference
between
the
proband
's
mutated
type
XVII
collagen
and
the
wild-
type
allele
appears
to
render
the
skin
prone
to
trauma-induced
blister
formation
.
Alternatively
,
other
undisclosed
modifying
genetic
or
epigenetic
factors
might
explain
why
the
patient
gets
blistering
whereas
her
mother
,
who
has
the
same
COL
17
A
1
mutation
,
has
no
skin
fragility
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom