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Harlequin ichthyosis: a case report of prolonged survival.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
a
rare
type
of
congenital
ichthyosis
associated
with
poor
survival
.
We
report
,
with
photographic
record
,
a
male
baby
born
with
HI
.
To
the
best
of
our
knowledge
,
this
is
the
first
reported
case
of
HI
in
Saudi
Arabia
,
where
the
child
has
survived
beyond
7
years
.
The
baby
was
born
at
37
weeks
of
gestation
from
consanguineous
parents
with
no
inherited
skin
disorder
in
the
family
.
The
mother
was
28
years
old
with
three
normal
previous
pregnancies
and
healthy
babies
.
At
birth
,
the
baby
's
skin
had
thick
scales
separated
by
deep
fissuring
.
He
was
managed
in
intensive
care
with
supportive
treatment
and
frequent
application
of
lubricants
,
emollients
and
urea
cream
.
The
skin
gradually
became
softened
,
and
began
to
shed
after
6
weeks
.
After
8
months
of
inpatient
management
,
he
was
discharged
.
He
is
currently
7
years
old
and
is
still
being
treated
for
non-
bullous
congenital
ichthyosiform
erythroderma
.
Diseases
Validation
Diseases presenting
"first reported case"
symptom
achondroplasia
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
aniridia
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
fabry disease
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
kabuki syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
thoracic outlet syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
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