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CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
[child syndrome]
CHILD
syndrome
(
congenital
hemidysplasia
with
ichthyosiform
nevus
and
limb
defects
,
Online
Mendelian
Inheritance
in
Man
308050
)
is
an
X-
linked
dominant
trait
with
lethality
for
male
embryos
.
The
disorder
is
caused
by
mutations
in
NSDHL
(
Online
Mendelian
Inheritance
in
Man
300275
)
,
a
gene
playing
an
important
role
in
the
cholesterol
biosynthetic
pathway
.
Most
reports
deal
with
sporadic
cases
,
and
only
5
cases
of
mother-
to
-daughter
transmission
have
been
documented
.
We
present
here
a
family
with
mild
features
of
CHILD
syndrome
in
3
generations
.
Molecular
analysis
was
used
to
confirm
the
diagnosis
.
We
studied
14
members
of
a
family
with
CHILD
syndrome
.
The
23
-
year
-old
proposita
,
her
mother
,
2
aunts
,
and
her
grandmother
presented
with
mild
or
minimal
skin
lesions
that
had
been
present
since
infancy
.
Analysis
of
the
NSDHL
gene
showed
missense
mutation
c
.
370
G--
>
A
in
these
5
patients
.
This
mutation
was
absent
in
the
9
clinically
unaffected
family
members
tested
.
In
this
family
,
we
recognized
CHILD
syndrome
with
mild
or
minimal
features
in
3
generations
because
we
were
able
to
verify
our
clinical
diagnosis
by
means
of
molecular
analysis
.
We
assume
that
many
cases
that
so
far
have
been
considered
sporadic
may
in
fact
be
familial
when
a
meticulous
physical
examination
of
female
family
members
is
combined
with
molecular
testing
.
Diseases
Validation
Diseases presenting
"nevus"
symptom
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
kabuki syndrome
lamellar ichthyosis
liposarcoma
malignant atrophic papulosis
oculocutaneous albinism
proteus syndrome
sneddon syndrome
This symptom has already been validated