Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Childhood mastocytosis.
[cutaneous mastocytosis]
Important
advances
have
been
achieved
in
recent
years
in
adult
mastocytosis
.
However
,
our
knowledge
about
childhood
mastocytosis
is
limited
because
invasive
tests
are
not
routinely
performed
in
children
.
We
ignore
the
frequency
of
systemic
involvement
in
childhood
mastocytosis
,
its
outcome
,
and
which
are
the
main
clinical
and
laboratory
parameters
associated
with
persistence
into
adult
mastocytosis
and
its
severity
.
Childhood
mastocytosis
is
a
clonal
mast
cell
disease
,
with
different
activating
mutations
in
the
KIT
gene
discovered
in
most
patients
.
Serum
tryptase
is
the
best
marker
for
mast
cell
burden
in
children
,
and
,
at
baseline
,
correlates
well
with
the
severity
of
symptoms
in
childhood
mastocytosis
.
Systemic
mastocytosis
definitely
may
occur
in
children
,
but
bone
marrow
studies
to
demonstrate
a
systemic
involvement
are
not
routinely
performed
nor
recommended
;
it
can
be
estimated
that
around
30
%
of
children
may
have
bone
marrow
involvement
as
demonstrated
by
showing
aggregates
of
mast
cells
or
by
flow
cytometry
of
mast
cells
expressing
the
aberrant
CD
2
5
marker
.
A
new
and
improved
classification
of
childhood
mastocytosis
is
needed
,
and
should
be
based
on
the
correlation
of
clinical
manifestations
,
morphology
of
mast
cells
in
the
skin
,
and
the
predicted
outcome
of
the
disease
.
The
current
classifications
of
childhood
mastocytosis
do
not
address
any
of
these
important
issues
.
Diseases
Validation
Diseases presenting
"bone marrow involvement"
symptom
cutaneous mastocytosis
esophageal squamous cell carcinoma
waldenström macroglobulinemia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom