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Hermansky-pudlak syndrome: a case report.
[oculocutaneous albinism]
Objective
.
The
aim
of
this
paper
is
to
report
the
case
of
a
patient
diagnosed
with
Hermansky-
Pudlak
syndrome
,
as
a
result
of
bleeding
diathesis
.
Clinical
Presentation
and
Intervention
.
A
23
-
year
-old
male
presented
with
recurrent
epistaxis
and
,
upon
physical
examination
,
was
found
to
be
remarkable
for
albinism
and
suborbital
ecchymosis
.
The
absence
of
dense
bodies
in
the
platelets
was
demonstrated
using
electron
microscopy
.
This
patient
was
(
slowly
)
administered
one
unit
of
a
platelet
suspension
,
and
his
bleeding
decreased
considerably
.
Conclusion
.
This
case
shows
that
Hermansky-
Pudlak
syndrome
should
be
considered
in
the
differential
diagnosis
of
a
patient
presenting
with
bleeding
diathesis
,
when
the
clinical
presentation
also
includes
oculocutaneous
albinism
and
visual
problems
.
