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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
"autoimmune disease"
symptom
acute rheumatic fever
coats disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kabuki syndrome
malignant atrophic papulosis
omenn syndrome
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated