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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
.