Rare Diseases Symptoms Automatic Extraction
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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
"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