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Harlequin ichthyosis unmasked: a defect of lipid transport.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
-
-
the
most
severe
form
of
keratinizing
disorders
,
often
lethal
in
the
neonatal
period--
is
characterized
by
a
profound
thickening
of
the
keratin
skin
layer
,
a
dense
"
armor
"
-
like
scale
that
covers
the
body
,
and
contraction
abnormalities
of
the
eyes
,
ears
,
and
mouth
.
In
this
issue
of
the
JCI
,
Akiyama
et
al
.
report
that
mutations
in
ABCA
12
caused
defective
lipid
transport
that
significantly
impacted
normal
development
of
the
skin
barrier
.
Lipid
secretion
was
recovered
after
corrective
ABCA
12
gene
transfer
into
patient
keratinocytes
.
These
results
should
allow
for
early
prenatal
diagnosis
of
HI
and
lend
hope
to
the
possibility
of
a
specific
treatment
for
this
devastating
disorder
.
Diseases
Validation
Diseases presenting
"abnormalities of the eyes"
symptom
harlequin ichthyosis
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