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[Clinical observations in cutan mastocytosis].
[cutaneous mastocytosis]
Mastocytosis
is
a
clonal
mast
cell
proliferative
disease
,
divided
into
cutaneous
and
systemic
forms
.
The
characteristic
symptoms
are
caused
by
neoplastic
mast
cell
infiltrations
in
different
organs
and
/
or
the
release
of
mediators
.
The
aim
of
the
authors
was
to
summarize
their
clinical
observations
in
patients
with
mastocytosis
.
22
adult
patients
diagnosed
consecutively
with
mastocytosis
were
enrolled
in
the
study
.
Skin
and
bone
marrow
biopsies
were
taken
to
establish
the
diagnosis
and
perform
c-
KIT
mutation
(
D
816
V
)
analysis
.
One
of
the
22
patients
had
teleangiectasia
macularis
eruptiva
perstans
,
while
20
/
22
patients
had
urticaria
pigmentosa
.
All
patients
had
cutaneous
lesions
.
In
12
patients
iliac
crest
biopsy
was
performed
and
9
of
them
had
bone
marrow
involvement
,
classified
as
indolent
systemic
mastocytosis
.
The
c-kit
mutation
D
816
V
was
found
in
one
subject
both
in
skin
and
bone
marrow
samples
.
The
patients
were
treated
with
antihistamine
,
PUVA
,
interferon-α
or
imatinib
.
The
authors
draw
attention
to
this
rare
disease
in
order
to
help
recognition
of
relevant
signs
and
symptoms
and
establish
an
early
diagnosis
.
Diseases
Validation
Diseases presenting
"bone marrow involvement"
symptom
cutaneous mastocytosis
esophageal squamous cell carcinoma
waldenström macroglobulinemia
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