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Mucocutaneous granulomatous disease in a patient with hermansky-pudlak syndrome.
[oculocutaneous albinism]
Hermansky-
Pudlak
syndrome
(
HPS
)
is
a
rare
genodermatosis
characterized
by
oculocutaneous
albinism
,
platelet
dysfunction
,
and
in
some
patients
,
pulmonary
fibrosis
and
granulomatous
colitis
.
The
granulomatous
inflammation
in
the
bowel
of
patients
with
HPS
can
be
indistinguishable
clinically
and
histologically
from
that
of
Crohn
disease
(
CD
)
;
however
,
mucocutaneous
granulomatous
lesions
have
not
been
considered
among
the
typical
skin
findings
of
HPS
.
We
report
a
case
of
an
albino
woman
in
her
40
s
with
a
history
of
CD
and
pulmonary
fibrosis
who
presented
with
ulcers
,
plaques
,
and
nodules
in
the
vulva
,
perineum
,
inguinal
creases
,
and
left
axilla
.
These
cutaneous
findings
had
the
typical
clinical
and
histologic
findings
of
metastatic
cutaneous
CD
.
However
,
she
also
had
a
genetically
confirmed
diagnosis
of
HPS
.
I
t
is
unclear
whether
our
patient
's
cutaneous
findings
were
due
to
CD
or
secondary
to
HPS
.
This
report
reviews
the
features
of
HPS
and
CD
,
2
entities
characterized
by
a
granulomatous
inflammatory
reaction
pattern
but
with
unique
genetic
and
clinical
features
,
and
discusses
the
possible
overlap
between
the
2
diagnoses
.
Diseases
Validation
Diseases presenting
"genetically confirmed diagnosis"
symptom
cadasil
oculocutaneous albinism
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