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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
.
