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Harlequin ichthyosis: Case report.
[harlequin ichthyosis]
Harlequin
fetus
is
a
rare
and
the
most
severe
form
of
the
congenital
ichthyosis
with
an
autosomal
recessive
inheritance
.
Incidence
of
the
disease
is
nearly
1
in
3
,
00
,
000
live
births
.
The
disease
might
be
lethal
at
birth
and
the
affected
babies
are
often
premature
.
Harlequin
ichthyosis
(
HI
)
is
marked
by
severe
keratinized
and
alligator-like
horned
skin
.
The
present
study
reports
a
new
case
with
HI
and
adds
to
the
collective
knowledge
of
this
rare
skin
disorder
.
HI
has
been
linked
to
mutation
in
the
ABCA
12
gene
;
therefore
,
genetic
counseling
and
mutation
screening
of
this
gene
should
be
considered
.
Diseases
Validation
Diseases presenting
"skin disorder"
symptom
aniridia
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
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