Rare Diseases Symptoms Automatic Extraction
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A rare case of collodion baby with ophthalmic involvement.
[lamellar ichthyosis]
Ichthyosis
is
an
infrequent
clinical
entity
worldwide
(
1
:
300
,
000
births
)
.
When
diagnosed
in
a
newborn
,
two
forms
can
be
identified
:
collodion
baby
and
its
most
severe
form
,
harlequin
fetus
or
maligna
keratoma
.
In
both
cases
,
clinical
manifestations
are
thick
and
hard
skin
with
deep
splits
.
The
splits
are
more
prominent
in
the
flexion
areas
.
We
report
a
case
of
a
4
-
day
-old
baby
who
was
referred
to
JNMC
Eye
OPD
by
the
Pediatric
Department
of
the
JNMC
.
He
was
having
severe
bilateral
ectropion
of
the
upper
lids
and
chemosis
of
conjuntiva
,
without
corneal
involvement
.
There
was
distortion
of
the
pinna
and
peeling
of
the
skin
,
more
over
the
chest
around
the
neck
region
and
over
the
flexor
aspect
of
limbs
.
Management
of
collodion
baby
requires
a
multi-disciplinary
approach
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated