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Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.
[oculocutaneous albinism]
We
herein
report
a
case
of
Hermansky-
Pudlak
syndrome
(
HPS
)
with
nonspecific
interstitial
pneumonia
(
NSIP
)
.
A
58
-
year
-old
Japanese
woman
presented
with
oculocutaneous
albinism
and
dyspnea
on
exertion
.
A
high
resolution
computed
tomography
scan
showed
areas
of
reticular
and
ground
glass
opacity
in
the
lungs
,
and
a
surgical
lung
biopsy
revealed
fibrotic
NSIP
.
Foamy
type
2
pneumocytes
and
the
absence
of
dense
granules
in
platelets
were
also
observed
,
consistent
with
a
diagnosis
of
HPS
.
Ultimately
,
a
genetic
analysis
revealed
a
mutation
in
the
HPS
1
gene
.
The
interstitial
pneumonia
progressed
despite
treatment
with
prednisolone
,
cyclosporine
A
and
pirfenidone
.
In
this
report
,
we
discuss
the
pathological
lung
features
and
treatment
of
HPS
associated
with
interstitial
pneumonia
.
Diseases
Validation
Diseases presenting
"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
oculocutaneous albinism
omenn syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated