Rare Diseases Symptoms Automatic Extraction
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[Harlequin ichthyosis--medical and psychosocial challenges].
[lamellar 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
"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