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Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM).
[cutaneous mastocytosis]
Systemic
mastocytosis
(
SM
)
is
a
hematopoietic
neoplasm
characterized
by
pathologic
expansion
of
tissue
mast
cells
in
one
or
more
extracutaneous
organs
.
In
most
children
and
most
adult
patients
,
skin
involvement
is
found
.
Childhood
patients
frequently
suffer
from
cutaneous
mastocytosis
without
systemic
involvement
,
whereas
most
adult
patients
are
diagnosed
as
suffering
from
SM
.
In
a
smaller
subset
of
patients
,
SM
without
skin
lesions
develops
which
is
a
diagnostic
challenge
.
In
the
current
article
,
a
diagnostic
algorithm
for
patients
with
suspected
SM
is
proposed
.
In
adult
patients
with
skin
lesions
and
histologically
confirmed
mastocytosis
in
the
skin
(
MIS
)
,
a
bone
marrow
biopsy
is
recommended
regardless
of
the
serum
tryptase
level
.
In
adult
patients
without
skin
lesions
who
are
suffering
from
typical
mediator-related
symptoms
,
the
basal
serum
tryptase
level
is
an
important
diagnostic
parameter
.
In
those
with
slightly
elevated
tryptase
(
15
-
30
ng
/
ml
)
,
additional
non-invasive
investigations
,
including
a
KIT
mutation
analysis
of
peripheral
blood
cells
and
sonographic
analysis
,
is
performed
.
In
adult
patients
in
whom
i
)
KIT
D
816
V
is
detected
or
/
and
ii
)
the
basal
serum
tryptase
level
is
clearly
elevated
(
>
30
ng
/
ml
)
or
/
and
iii
)
other
clinical
or
laboratory
features
are
suggesting
the
presence
of
occult
mastocytosis
,
a
bone
marrow
biopsy
should
be
performed
.
In
the
absence
of
KIT
D
816
V
and
other
indications
of
mastocytosis
,
no
bone
marrow
investigation
is
required
,
but
the
patient
's
course
and
the
serum
tryptase
levels
are
examined
in
the
follow-up
.
Diseases
Validation
Diseases presenting
"neoplasm"
symptom
adrenal incidentaloma
alexander disease
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial hypocalciuric hypercalcemia
focal myositis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated