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Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.
[proteus syndrome]
We
report
on
two
patients
with
Proteus
syndrome
(
PS
)
,
with
emphasis
on
its
pulmonary
manifestations
.
The
first
patient
was
a
6
-
year
-old
girl
diagnosed
with
PS
at
5
years
of
age
.
The
pulmonary
abnormalities
first
observed
at
age
3
years
and
included
streaky
densities
with
accentuated
vascular
markings
detected
by
chest
radiography
.
The
patient
had
persistent
abnormalities
on
follow-up
chest
radiographs
.
Chest
computed
tomography
(
CT
)
scans
showed
diffuse
pulmonary
venous
dilatations
.
The
second
patient
was
a
10
-
year
-old
boy
diagnosed
with
PS
at
age
4
years
.
Chest
radiography
and
CT
scans
showed
patchy
and
streaky
densities
intermixed
with
small
bullae
,
which
were
interpreted
as
pneumonia
with
post-
inflammatory
pneumatoceles
.
The
patient
developed
diffuse
enlargement
of
air
spaces
of
the
lungs
at
age
10
years
with
severe
respiratory
compromise
.
Although
pulmonary
manifestations
in
PS
are
uncommon
,
recognition
of
pulmonary
vein
malformation
and
the
presentation
of
enlarged
air
spaces
in
the
lungs
at
an
earlier
age
are
important
for
accurate
diagnosis
.
The
plain
radiograph
findings
of
accentuated
vascular
markings
seen
in
patients
with
PS
may
appear
similar
to
interstitial
or
chronic
pneumonia
.
This
report
emphasizes
the
features
of
lung
involvement
in
children
with
PS
and
suggests
that
specific
attention
be
paid
to
pulmonary
manifestations
using
chest
CT
scans
.
©
2011
Wiley
-
Liss
,
Inc
.
Diseases
Validation
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"pneumonia"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
allergic bronchopulmonary aspergillosis
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
heparin-induced thrombocytopenia
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
lamellar ichthyosis
legionellosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
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omenn syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
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triple a syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated