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Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
[lamellar ichthyosis]
Sjögren-
Larsson
syndrome
is
a
genetic
disease
characterized
by
ichthyosis
,
mental
retardation
,
spasticity
and
mutations
in
the
ALDH
3
A
2
gene
coding
for
fatty
aldehyde
dehydrogenase
,
an
enzyme
necessary
for
oxidation
of
fatty
aldehydes
and
fatty
alcohols
.
We
investigated
the
cutaneous
abnormalities
in
9
patients
with
Sjögren-
Larsson
syndrome
to
better
understand
how
the
enzymatic
deficiency
results
in
epidermal
dysfunction
.
Histochemical
staining
for
aldehyde
oxidizing
activity
was
profoundly
reduced
in
the
epidermis
.
Colloidal
lanthanum
perfusion
studies
showed
abnormal
movement
of
tracer
into
the
extracellular
spaces
of
the
stratum
corneum
consistent
with
a
leaky
water
barrier
.
The
barrier
defect
could
be
attributed
to
the
presence
of
abnormal
lamellar
bodies
,
many
with
disrupted
limiting
membranes
or
lacking
lamellar
contents
.
Entombed
lamellar
bodies
were
present
in
the
cytoplasm
of
corneocytes
suggesting
blockade
of
lamellar
body
secretion
.
At
the
stratum
granulosum-stratum
corneum
interface
,
non-lamellar
material
displaced
or
replaced
secreted
lamellar
membranes
,
and
in
the
stratum
corneum
,
the
number
of
lamellar
bilayers
declined
and
lamellar
membrane
organization
was
disrupted
by
foci
of
lamellar
/
non-lamellar
phase
separation
.
These
studies
demonstrate
the
presence
of
a
permeability
barrier
abnormality
in
Sjögren-
Larsson
syndrome
,
which
localizes
to
the
stratum
corneum
interstices
and
can
be
attributed
to
abnormalities
in
lamellar
body
formation
and
secretion
.
Diseases
Validation
Diseases presenting
"secretion"
symptom
familial hypocalciuric hypercalcemia
lamellar ichthyosis
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