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Harlequin ichthyosis.
[harlequin 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
"first-degree relatives"
symptom
22q11.2 deletion syndrome
cadasil
congenital adrenal hyperplasia
cushing syndrome
familial hypocalciuric hypercalcemia
harlequin ichthyosis
lamellar ichthyosis
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