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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
"skin lesions"
symptom
child syndrome
cowden syndrome
cutaneous mastocytosis
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
familial mediterranean fever
focal myositis
gm1 gangliosidosis
heparin-induced thrombocytopenia
hirschsprung disease
junctional epidermolysis bullosa
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
oligodontia
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
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