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Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.
[harlequin ichthyosis]
Congenital
ichthyoses
are
a
group
of
heterogeneous
disorders
of
cornification
.
Autosomal
recessive
congenital
ichthyosis
(
ARCI
)
can
be
clinically
subdivided
into
congenital
ichthyosiform
erythroderma
and
lamellar
ichthyosis
.
Ultrastructurally
,
ARCI
is
classified
into
four
groups
:
ichthyosis
congenita
(
IC
)
types
I
-IV
.
The
genetic
background
of
the
ARCI
disorders
is
heterogeneous
,
but
only
one
disease
gene
,
transglutaminase
1
,
has
been
detected
so
far
.
We
describe
six
patients
with
severe
congenital
ichthyosis
from
six
different
Scandinavian
families
.
They
could
not
be
classified
ultrastructurally
into
the
four
IC
groups
because
of
atypical
findings
of
electron
microscopy
.
These
included
abnormal
lamellar
bodies
,
alterations
in
keratohyalin
,
remnant
organelles
and
lipid
inclusions
in
the
upper
epidermal
cells
,
which
resembled
the
ultrastructural
findings
of
harlequin
ichthyosis
(
HI
)
,
although
the
HI
phenotype
was
not
present
at
birth
.
Some
clinical
features
,
such
as
thick
scales
,
erythroderma
,
alopecia
and
ectropion
were
common
to
all
patients
.
Ichthyosis
was
usually
accentuated
in
the
scalp
and
four
patients
had
clumped
fingers
and
toes
.
None
of
the
patients
carried
the
transglutaminase
1
mutation
.
We
conclude
that
ultrastructural
findings
resembling
those
detected
in
previous
HI
cases
(
type
1
and
2
)
can
also
be
found
in
patients
who
do
not
have
classic
clinical
features
of
that
rare
ichthyosis
.
This
may
be
due
to
lack
of
specificity
of
ultrastructural
markers
for
HI
or
to
its
clinical
heterogeneity
.
Diseases
Validation
Diseases presenting
"alterations in keratohyalin"
symptom
harlequin ichthyosis
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