Rare Diseases Symptoms Automatic Extraction
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Harlequin ichthyosis.
[lamellar ichthyosis]
A
2
-
hour
-old
newborn
boy
hospitalized
in
the
neonatal
intensive
care
unit
was
examined
for
unusual
cutaneous
lesions
.
He
had
firm
plaques
covering
his
body
,
with
fissures
especially
in
flexural
areas
.
Other
remarkable
findings
included
edematous
hands
and
feet
,
ectropion
,
eclabium
,
and
contractures
(
Figure
)
.
Topical
emollients
and
etretinate
were
advised
,
but
the
newborn
died
a
few
hours
later
.
The
parents
were
first
-degree
relatives
.
There
was
no
family
history
of
similar
lesions
.
On
the
basis
of
clinical
features
,
the
diagnosis
of
harlequin
ichthyosis
was
made
.
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