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Mastocytosis and related disorders.
[cutaneous mastocytosis]
Mastocytosis
represents
a
heterogeneous
group
of
disorders
characterized
by
an
abnormal
accumulation
of
mast
cells
in
one
or
more
organ
systems
.
Mastocytosis
is
further
divided
into
different
subtypes
according
to
the
sites
of
involvement
,
laboratory
findings
,
and
degree
of
organ
impairment
.
Cutaneous
mastocytosis
is
diagnosed
in
the
presence
of
skin
involvement
and
absence
of
extracutaneous
disease
,
and
is
most
commonly
seen
in
the
pediatric
population
.
Systemic
mastocytosis
,
the
disease
form
most
commonly
seen
in
adults
,
is
characterized
by
the
presence
of
multifocal
,
compact
(
dense
)
mast
cell
aggregates
in
the
bone
marrow
or
other
extracutaneous
organs
.
The
mast
cells
may
display
atypical
,
often
spindle-shape
morphology
and
/
or
aberrant
CD
2
and
/
or
CD
2
5
expression
.
Elevation
of
serum
tryptase
and
/
or
presence
of
KIT
D
816
V
mutation
are
other
common
findings
.
Systemic
mastocytosis
is
further
divided
into
different
subtypes
based
on
a
combination
of
clinical
features
and
laboratory
findings
.
Recent
studies
have
indicated
that
CD
30
is
frequently
expressed
in
aggressive
systemic
mastocytosis
and
mast
cell
leukemia
but
infrequently
in
indolent
systemic
mastocytosis
,
and
may
be
a
useful
marker
for
distinguishing
these
subtypes
of
systemic
mastocytosis
from
one
another
.
A
group
of
related
myeloid
disorders
,
collectively
termed
myelomastocytic
overlap
syndromes
,
may
pose
diagnostic
difficulty
because
of
their
significant
clinical
and
pathologic
overlap
with
systemic
mastocytosis
,
and
these
will
also
be
discussed
in
this
review
.
Diseases
Validation
Diseases presenting
"skin involvement"
symptom
cutaneous mastocytosis
hodgkin lymphoma, classical
lamellar ichthyosis
malignant atrophic papulosis
oligodontia
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