Rare Diseases Symptoms Automatic Extraction
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A review of harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
an
extremely
rare
and
historically
lethal
congenital
disorder
of
the
skin
caused
by
abnormal
keratinization
.
This
article
reviews
the
embryology
and
currently
understood
pathophysiology
of
the
disease
,
as
well
as
current
methods
used
to
diagnose
and
treat
these
infants
.
There
are
serious
implications
for
the
family
to
consider
:
the
high
risk
that
their
newborn
will
die
soon
,
as
well
as
future
family
planning
issues
.
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