Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"skin lesion"
symptom
child syndrome
familial mediterranean fever
lamellar ichthyosis
malignant atrophic papulosis
omenn syndrome
proteus syndrome
sneddon syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom