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CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.
[child syndrome]
CHILD
syndrome
is
an
acronym
signifying
congenital
hemidysplasia
with
ichthyosiform
nevus
and
limb
defects
.
A
27
-
year
-old
woman
presented
with
chronic
verrucous
and
hyperkeratotic
skin
lesions
involving
the
left
genital
area
,
left
hand
and
left
foot
since
childhood
.
The
histopathologic
findings
were
consistent
with
verruciform
xanthoma
.
In
correlation
with
the
clinical
picture
of
a
linear
lesion
,
the
diagnosis
of
CHILD
nevus
was
made
.
Subsequent
genetic
analysis
identified
a
germline
c
.
324
C
>
T
(
p
.
A
105
V
)
NSDHL
mutation
and
confirmed
a
diagnosis
of
CHILD
syndrome
.
This
syndrome
can
be
associated
with
only
minimal
clinical
symptoms
.
The
anatomical
distribution
of
the
lesions
,
a
static
clinical
course
and
the
typical
histopathologic
features
of
a
CHILD
nevus
can
serve
as
the
clue
to
a
diagnosis
of
CHILD
syndrome
in
such
cases
.
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