Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Role of imatinib in the treatment of pediatric onset indolent systemic mastocytosis: a case report.
[cutaneous mastocytosis]
Mastocytosis
is
a
sporadic
disease
characterized
by
an
abnormal
accumulation
of
mast
cells
(
MCs
)
in
single
or
multiple
organs
.
It
has
a
heterogeneous
clinical
picture
which
is
a
reflection
of
underlying
tissue
MC
burden
,
mediators
released
and
the
organs
involved
.
Here
,
the
authors
report
significant
symptomatic
,
cutaneous
and
systemic
response
to
imatinib
in
a
case
of
childhood
onset
indolent
D
816
V
KIT
unmutated
systemic
mastocytosis
(
SM
)
.
A
19
-
year
-old
female
presented
with
a
history
of
itchy
skin
lesions
over
the
face
,
trunk
and
extremities
since
6
months
of
age
associated
with
recurrent
bouts
of
angioedema
.
The
skin
and
bone
marrow
examination
were
consistent
with
mastocytosis
.
No
pathogenic
mutations
were
detected
in
exons
8
and
17
.
In
view
of
the
severity
of
cutaneous
symptoms
and
evidence
of
bone
marrow
involvement
,
she
was
treated
with
imatinib
which
resulted
in
marked
improvement
.
Imatinib
has
a
therapeutic
role
in
the
presence
of
an
imatinib-sensitive
KIT
mutation
or
in
KIT
816
-
unmutated
patients
with
aggressive
SM
.
Its
role
in
the
treatment
of
indolent
and
cutaneous
mastocytosis
is
less
well
established
.
However
,
the
authors
have
demonstrated
the
usefulness
of
imatinib
in
the
treatment
of
c-
KIT
-negative
indolent
SM
with
extensive
cutaneous
involvement
.
