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Dorfman-Chanarin syndrome in two female siblings: a case report and discussion on approach and management.
[lamellar ichthyosis]
Dorfman-
Chanarin
syndrome
(
DCS
)
is
a
very
rare
disorder
of
lipid
metabolism
that
exhibits
an
autosomal
recessive
pattern
of
inheritance
.
Besides
ichthyosis
,
systemic
manifestations
may
be
present
.
We
report
two
female
siblings
with
DCS
who
presented
with
non-bullous
ichthyosiform
erythroderma
(
NBIE
)
.
A
peripheral
blood
smear
demonstrated
Jordan
anomaly
.
This
case
emphasizes
the
need
for
peripheral
blood
smear
screening
in
patients
with
congenital
ichthyosis
.
A
2
½
-
year
-old
female
child
and
her
1
-
month
-old
sibling
presented
with
generalized
erythema
and
scaling
,
which
was
suggestive
of
NBIE
.
Hepatomegaly
and
ectropion
were
seen
in
the
older
sibling
.
A
peripheral
blood
smear
of
both
the
patients
revealed
Jordan
anomaly
.
Serum
biochemistry
revealed
abnormal
liver
function
tests
,
abnormal
lipid
profile
,
and
elevated
muscle
-derived
enzymes
.
A
diagnosis
of
Dorfman-
Chanarin
syndrome
was
made
in
both
the
siblings
.
Screening
for
Jordan
anomaly
in
the
family
members
including
the
parents
and
maternal
and
paternal
grandmothers
was
negative
.
The
peculiarities
in
our
case
include
the
presence
of
this
disorder
in
both
female
siblings
along
with
alopecia
in
the
younger
sibling
.
Hyperlipidemia
,
noted
in
one
of
our
cases
,
is
also
not
a
common
association
.
Diagnosing
DCS
is
fairly
simple
and
a
high
index
of
suspicion
may
lead
to
higher
rates
of
detection
of
this
rare
disorder
.
Diseases
Validation
Diseases presenting
"hepatomegaly"
symptom
carcinoma of the gallbladder
congenital toxoplasmosis
cutaneous mastocytosis
lamellar ichthyosis
neonatal adrenoleukodystrophy
scrub typhus
typhoid
waldenström macroglobulinemia
zellweger syndrome
This symptom has already been validated