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The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
[child syndrome]
CHILD
syndrome
(
Congenital
Hemidysplasia
with
Ichthyosiform
erythroderma
and
Limb
Defects
)
is
a
rare
X-
linked
dominant
ichthyotic
disorder
.
CHILD
syndrome
results
from
loss
of
function
mutations
in
the
NSDHL
gene
,
which
leads
to
inhibition
of
cholesterol
synthesis
and
accumulation
of
toxic
metabolic
intermediates
in
affected
tissues
.
The
CHILD
syndrome
skin
is
characterized
by
plaques
topped
by
waxy
scales
and
a
variety
of
developmental
defects
in
extracutaneous
tissues
,
particularly
limb
hypoplasia
or
aplasia
.
Strikingly
,
these
alterations
are
commonly
segregated
to
either
the
right
or
left
side
of
the
body
midline
with
little
to
no
manifestations
on
the
ipsilateral
side
.
By
understanding
the
underlying
disease
mechanism
of
CHILD
syndrome
,
a
pathogenesis-based
therapy
has
been
developed
that
successfully
reverses
the
CHILD
syndrome
skin
phenotype
and
has
potential
applications
to
the
treatment
of
other
ichthyoses
.
This
article
is
part
of
a
Special
Issue
entitled
The
Important
Role
of
Lipids
in
the
Epidermis
and
their
Role
in
the
Formation
and
Maintenance
of
the
Cutaneous
Barrier
.
Guest
Editors
:
Kenneth
R
.
Feingold
and
Peter
Elias
.
Diseases
Validation
Diseases presenting
"developmental defects in extracutaneous tissues"
symptom
child syndrome
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