Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"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