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Harlequin ichthyosis in association with hypothyroidism and juvenile rheumatoid arthritis.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
a
rare
and
severe
congenital
erythrodermic
ichthyosis
characterized
at
birth
by
hyperkeratotic
plates
covering
the
entire
body
,
ectropion
,
eclabium
,
poorly
developed
ears
,
and
contractures
of
the
hands
and
feet
.
Two
Chinese
children
,
a
2
-
year
-old
boy
and
an
11
-
year
-old
girl
,
presented
with
these
classic
features
as
well
as
alopecia
and
loss
of
eyebrows
and
eyelashes
.
The
boy
was
small
for
his
age
and
was
found
to
have
hypothyroidism
at
the
age
of
18
months
;
he
is
currently
on
thyroxine
replacement
therapy
.
At
6
years
of
age
,
the
girl
developed
symmetrical
polyarthritis
associated
with
positive
rheumatoid
factor
and
radiologic
evidence
of
erosive
arthritis
,
suggestive
of
juvenile
rheumatoid
arthritis
.
She
received
prednisolone
,
nonsteroidal
anti-
inflammatory
drugs
(
NSAIDs
)
,
and
subsequently
methotrexate
for
her
arthritis
,
with
clinical
and
radiologic
improvement
.
Early
therapy
with
oral
retinoids
in
both
children
accelerated
shedding
of
the
hyperkeratotic
plates
as
well
as
improved
ectropion
and
eclabium
.
There
was
no
major
adverse
reaction
to
oral
retinoids
.
The
development
of
juvenile
rheumatoid
arthritis
in
survivors
with
harlequin
ichthyosis
has
not
been
previously
described
.
The
use
of
prednisolone
and
NSAIDs
in
the
girl
did
not
affect
the
skin
condition
,
but
the
addition
of
methotrexate
led
to
a
decrease
in
erythema
.
The
association
with
autoimmune
disease
is
probably
coincidental
.
The
psychosocial
impact
of
this
severe
lifelong
disease
on
the
two
families
was
enormous
.
Early
retinoid
therapy
may
improve
the
disorder
and
help
increase
survival
rates
.
A
multidisciplinary
approach
,
including
psychosocial
support
of
the
affected
families
,
is
vital
in
the
management
of
this
lifelong
disease
.
Diseases
Validation
Diseases presenting
"radiologic evidence of erosive arthritis"
symptom
harlequin ichthyosis
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