Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
[Harlequin ichthyosis--medical and psychosocial challenges].
[harlequin ichthyosis]
Harlequin
ichthyosis
is
the
most
severe
congenital
keratinizing
disorder
.
It
is
caused
by
mutations
in
the
ABCA
12
gene
leading
to
defective
lipid
transport
.
The
infants
are
born
with
ectropion
,
eclabium
and
fissured
plate-like
skin
.
Today
these
infants
can
survive
with
neonatal
intensive
care
and
retinoid
therapy
and
need
long
-term
interdisciplinary
treatment
in
order
to
improve
quality
of
life
.
However
,
the
outcome
in
our
case
is
impaired
by
severe
psychomotor
developmental
delay
,
which
has
not
yet
been
associated
with
Harlequin
Ichthyosis
.
Diseases
Validation
Diseases presenting
"ectropion"
symptom
harlequin ichthyosis
kindler syndrome
lamellar ichthyosis
This symptom has already been validated