Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.