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Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations.
[cutaneous mastocytosis]
Cutaneous
mastocytosis
in
children
is
a
generally
benign
disease
that
can
present
at
birth
and
is
often
associated
with
mast
cell
mediator-related
symptoms
including
pruritus
,
flushing
,
and
abdominal
pain
with
diarrhea
.
The
most
common
form
of
presentation
is
urticaria
pigmentosa
,
also
referred
to
as
maculopapular
mastocytosis
.
Flares
of
lesions
are
induced
by
triggers
such
as
physical
stimuli
,
changes
in
temperature
,
anxiety
,
medications
,
and
exercise
.
The
skin
lesions
are
typically
present
on
the
extremities
.
Symptoms
respond
to
topical
and
systemic
anti-mediator
therapy
including
antihistamines
and
cromolyn
sodium
.
Remission
at
puberty
is
seen
in
a
majority
of
cases
.
Progression
to
systemic
mastocytosis
with
involvement
of
extracutaneous
organs
is
not
common
.
The
cause
of
cutaneous
mastocytosis
is
unknown
and
familial
cases
are
rare
.
Mutations
of
c-kit
have
been
observed
in
the
skin
of
those
affected
.
The
diagnosis
is
established
on
clinical
grounds
and
the
findings
on
skin
biopsy
.
Bone
marrow
studies
are
recommended
if
there
is
suspicion
of
progression
of
disease
to
an
adult
form
,
if
cytoreductive
therapy
is
contemplated
,
or
if
skin
lesions
remain
present
and
/
or
tryptase
levels
remain
elevated
after
puberty
.
The
use
of
chemotherapy
,
including
kinase
inhibitors
,
is
strongly
discouraged
unless
severe
hematologic
disease
is
present
,
since
malignant
evolution
is
extremely
rare
.
Diseases
Validation
Diseases presenting
"anxiety"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
junctional epidermolysis bullosa
locked-in syndrome
monosomy 21
oligodontia
oral submucous fibrosis
phenylketonuria
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated