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Abnormal lamellar granules in a case of CHILD syndrome.
[child syndrome]
A
32
-
year
-old
female
had
cutaneous
and
musculoskeletal
changes
consistent
with
congenital
hemidysplasia
with
ichthyosiform
erythroderma
and
limb
defects
(
CHILD
)
syndrome
.
She
was
born
with
the
dysplastic
,
shortened
right
-sided
arm
and
leg
.
Erythematous
,
hyperkeratotic
lesion
occurred
on
the
trunk
initially
and
extended
to
the
right
-sided
arm
and
leg
.
Almost
all
area
of
her
right
-side
body
except
the
head
and
neck
was
covered
by
the
erythematous
lesion
with
yellow
waxy
scales
,
and
the
distal
end
of
the
rudimentary
leg
showed
a
verrucous
appearance
.
The
histology
shared
many
features
with
verruciform
xanthoma
.
Electron
microscopy
revealed
vesicular
structures
in
the
intercellular
spaces
of
the
stratum
corneum
and
vacuoles
or
vesicular
structures
in
upper
prickle
cell
layer
.
Some
of
them
can
be
recognized
as
abnormal
lamellar
granules
.
Within
the
foamy
cells
in
the
papillary
dermis
,
large
vacuoles
were
found
.
These
findings
suggested
that
abnormal
lipid
metabolism
involving
lamellar
granules
may
be
responsible
to
the
skin
lesion
of
CHILD
syndrome
.