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Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
[harlequin ichthyosis]
Many
of
the
ichthyoses
are
associated
with
inherited
disorders
of
lipid
metabolism
.
These
disorders
have
provided
unique
models
to
dissect
physiologic
processes
in
normal
epidermis
and
the
pathophysiology
of
more
common
scaling
conditions
.
In
most
of
these
disorders
,
a
permeability
barrier
abnormality
"
drives
"
pathophysiology
through
stimulation
of
epidermal
hyperplasia
.
Among
primary
abnormalities
of
nonpolar
lipid
metabolism
,
triglyceride
accumulation
in
neutral
lipid
storage
disease
as
a
result
of
a
lipase
mutation
provokes
a
barrier
abnormality
via
lamellar
/
nonlamellar
phase
separation
within
the
extracellular
matrix
of
the
stratum
corneum
(
SC
)
.
Similar
mechanisms
account
for
the
barrier
abnormalities
(
and
subsequent
ichthyosis
)
in
inherited
disorders
of
polar
lipid
metabolism
.
For
example
,
in
recessive
X-
linked
ichthyosis
(
RXLI
)
,
cholesterol
sulfate
(
CSO
(
4
)
)
accumulation
also
produces
a
permeability
barrier
defect
through
lamellar
/
nonlamellar
phase
separation
.
However
,
in
RXLI
,
the
desquamation
abnormality
is
in
part
attributable
to
the
plurifunctional
roles
of
CSO
(
4
)
as
a
regulator
of
both
epidermal
differentiation
and
corneodesmosome
degradation
.
Phase
separation
also
occurs
in
type
II
Gaucher
disease
(
GD
;
from
accumulation
of
glucosylceramides
as
a
result
of
to
beta
-
glucocerebrosidase
deficiency
)
.
Finally
,
failure
to
assemble
both
lipids
and
desquamatory
enzymes
into
nascent
epidermal
lamellar
bodies
(
LBs
)
accounts
for
both
the
permeability
barrier
and
desquamation
abnormalities
in
Harlequin
ichthyosis
(
HI
)
.
The
barrier
abnormality
provokes
the
clinical
phenotype
in
these
disorders
not
only
by
stimulating
epidermal
proliferation
,
but
also
by
inducing
inflammation
.
Diseases
Validation
Diseases presenting
"beta-glucocerebrosidase deficiency"
symptom
harlequin ichthyosis
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