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Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.
[harlequin ichthyosis]
A
case
of
harlequin
ichthyosis
with
compound
heterozygous
mutations
in
ABCA
12
was
successfully
managed
with
intensive
neonatal
care
and
endotracheal
intubation
and
without
oral
retinoids
.
The
individual
's
appearance
improved
dramatically
during
hospitalization
and
at
discharge
resembled
congenital
ichthyosiform
erythroderma
.
Diseases
Validation
Diseases presenting
"neonatal care"
symptom
congenital diaphragmatic hernia
dystrophic epidermolysis bullosa
harlequin ichthyosis
lamellar ichthyosis
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