Rare Diseases Symptoms Automatic Extraction
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Harlequin ichthyosis in two siblings.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
a
rare
and
extremely
severe
form
of
congenital
ichthyosis
.
The
affected
neonates
usually
do
not
survive
beyond
first
few
days
after
birth
,
but
several
long
-term
survivals
have
been
noted
.
The
inheritance
is
thought
to
be
autosomal
recessive
.
It
has
recently
been
shown
that
the
vast
majority
of
affected
individuals
are
homozygous
for
mutations
in
the
ABCA
12
gene
,
which
cause
a
deficiency
of
the
epidermal
lipid
transporter
and
result
in
hyperkeratosis
and
abnormal
barrier
function
.
Prenatal
diagnosis
is
possible
.
We
report
a
case
of
a
newborn
with
Harlequin
ichthyosis
,
a
product
of
consanguineous
marriage
,
with
a
history
of
similar
disease
leading
to
early
neonatal
death
previously
in
a
sibling
.
