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