Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type.
[junctional epidermolysis bullosa]
The
case
of
a
male
neonate
of
41
weeks
'
gestation
who
developed
blistering
of
the
skin
immediately
after
birth
is
described
.
His
parents
were
consanguineous
Tunisians
.
Electron
microscopy
of
a
cutaneous
biopsy
showed
skin
cleavage
within
the
lamina
lucida
and
immunoepitope
mapping
revealed
a
complete
absence
of
laminin
332
expression
.
These
findings
referred
to
the
diagnosis
of
junctional
epidermolysis
bullosa
(
JEB
)
Herlitz
type
.
The
neonate
died
at
3
months
of
age
due
to
sepsis
.
Molecular
analysis
of
laminin
332
chain
genes
LAMA
3
,
LAMB
3
and
LAMC
2
disclosed
a
novel
homozygous
nonsense
mutation
in
LAMA
3
(
p
.
Y
955
X
)
.
Clinical
and
laboratory
analyses
are
essential
for
the
diagnosis
of
JEB
subtypes
,
and
molecular
analysis
screening
is
crucial
to
manage
a
new
pregnancy
in
families
with
suspected
cases
of
JEB
.
Diseases
Validation
Diseases presenting
"sepsis"
symptom
acute rheumatic fever
carcinoma of the gallbladder
congenital diaphragmatic hernia
cushing syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
locked-in syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
scrub typhus
systemic capillary leak syndrome
typhoid
This symptom has already been validated
