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[Mastocytosis: revisited with new cytogenetic data].
[cutaneous mastocytosis]
Mastocytosis
is
a
heterogenous
disorder
due
to
abnormal
proliferation
and
infiltration
of
mast
cells
in
different
tissues
,
primarily
the
skin
and
the
bone
marrow
.
Cutaneous
mastocytosis
is
often
benign
and
regresses
spontaneously
.
Systemic
mastocytosis
is
a
chronic
disease
in
which
some
types
are
indolent
but
other
types
such
as
mast
cell
leukemia
are
very
aggressive
.
Pathogenesis
of
systemic
mastocytosis
involves
a
somatic
mutation
of
the
gene
coding
for
the
c-kit
receptor
,
the
most
frequent
mutation
being
D
816
V
.
Diagnostic
criteria
have
been
established
by
the
WHO
using
histopathological
,
molecular
and
biochemical
parameters
.
Treatment
of
systemic
mastocytosis
remains
a
challenge
for
the
clinician
due
to
variability
and
complexity
of
the
disease
.
There
is
,
in
addition
,
a
lack
of
a
standard
and
efficient
treatment
.
New
targeted
therapies
with
tyrosine
kinase
inhibitors
directed
against
the
c-kit
receptor
are
currently
being
studied
,
with
the
purpose
to
act
specifically
on
the
"
primum
movens
"
of
the
disease
.
The
current
review
provides
an
overview
of
pathogenesis
,
clinical
presentation
,
diagnosis
and
classification
of
cutaneous
and
systemic
mastocytosis
.
We
also
discuss
the
prognosis
and
the
different
treatments
currently
available
according
to
the
sub-
type
of
mastocytosis
.
Diseases
Validation
Diseases presenting
"chronic disease"
symptom
coats disease
congenital adrenal hyperplasia
cutaneous mastocytosis
dracunculiasis
kallmann syndrome
oral submucous fibrosis
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