Rare Diseases Symptoms Automatic Extraction
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Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
[oculocutaneous albinism]
Hermansky-
Pudlak
syndrome
(
HPS
)
is
an
autosomal-recessive
disorder
clinically
characterized
by
oculocutaneous
albinism
,
bleeding
diatheses
,
and
lysosomal
accumulation
of
ceroid
lipofuscin
,
which
in
some
cases
may
cause
granulomatous
colitis
and
pulmonary
fibrosis
.
Any
of
these
complications
could
result
in
a
shortened
life
span
for
patients
with
HPS
.
We
report
a
92
-
year
-old
man
with
HPS
5
who
,
to
our
knowledge
,
is
the
oldest
patient
with
HPS
documented
in
the
literature
.
This
report
highlights
the
importance
of
typing
HPS
to
counsel
patients
regarding
disease
prognosis
.