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NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: a new disease association.
[oligodontia]
Congenital
diseases
are
increasingly
being
recognised
in
adults
because
of
clinical
mimicry
,
variable
clinical
picture
or
rarity
of
the
disease
;
pregnancy
is
a
valuable
diagnostic
occasion
.
The
present
case
is
the
first
report
of
an
association
report
between
NEMO
syndrome
(
an
acronym
of
the
mutated
,
non-functioning
gene
,
NF-kB
essential
modulator
)
,
a
rare
X-
linked
disease
,
characterised
by
developmental
anomalies
,
immunodepression
and
skin
lesions
,
and
systemic
lupus
erythematosus
(
SLE
)
.
A
35
-
year
-old
patient
affected
by
SLE
sought
clinical
advice
in
the
8
th
week
of
gestation
.
The
diagnosis
of
SLE
dated
back
to
the
age
of
24
,
when
multisystemic
manifestations
(
pleuropericarditis
,
weight
loss
,
alopecia
,
skin
involvement
,
joint
pain
,
kidney
involvement
)
were
observed
.
She
had
been
treated
with
steroids
since
1999
;
immunosuppressive
drugs
had
been
added
for
short
periods
.
Developmental
anomalies
were
present
,
including
oligodontia
,
retinal
problems
,
anomalies
of
the
corpus
callosum
and
pes
planovalgus
.
Family
history
included
multiple
miscarriages
,
dental
malformations
and
oligodontia
and
skin
blistering
in
the
first
months
of
life
.
On
these
bases
,
incontinentia
pigmenti
(
IP
;
or
NEMO
syndrome
)
was
diagnosed
and
confirmed
by
genetic
testing
.
The
NEMO
gene
is
implicated
in
immune
deficiencies
as
well
as
in
autoimmune
diseases
.
This
report
may
suggest
a
role
for
NF-kB
essential
modulator
in
the
pathogenesis
of
SLE
,
in
the
context
of
the
complex
immunologic
deficiencies
increasingly
associated
with
autoimmune
diseases
.
Diseases
Validation
Diseases presenting
"dental malformations and oligodontia and skin blistering in the first months of life"
symptom
oligodontia
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