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Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations.
[cutaneous mastocytosis]
Cutaneous
mastocytosis
is
a
rare
clinically
heterogeneous
disorder
characterized
by
mast
cell
infiltration
.
Mastocytosis
affects
both
children
and
adults
and
has
been
reported
to
occur
in
families
.
Recent
data
suggest
that
mutations
in
the
c-kit
proto-oncogene
are
causative
of
mastocytosis
not
only
in
adults
but
in
children
and
familial
cases
as
well
;
however
,
mutation
analysis
other
than
D
816
V
is
not
widely
available
,
making
detection
of
causative
mutations
problematic
.
We
present
the
case
of
a
33
-
year
-old
man
with
a
30
-
year
history
of
persistent
urticaria
pigmentosa
and
his
2
affected
children
.
Sequencing
of
KIT
exons
8
,
10
,
11
,
and
17
was
carried
out
on
a
skin
biopsy
specimen
and
mucosal
swabs
of
the
incident
case
and
was
negative
for
known
KIT
mutations
.
Additional
work-up
was
deferred
by
the
family
.
Presentation
of
this
familial
case
of
urticaria
pigmentosa
demonstrates
the
complexity
of
genetic
evaluation
in
clinical
settings
.
It
suggests
that
mutations
other
than
those
reported
in
exons
8
,
10
,
11
,
and
17
may
also
result
in
familial
mastocytosis
.
Presentation
of
this
case
also
allows
for
review
of
the
mechanism
of
action
of
causative
KIT
mutations
and
the
recent
literature
supporting
KIT
mutations
in
childhood
and
familial
mastocytosis
.
Diseases
Validation
Diseases presenting
"clinically heterogeneous disorder"
symptom
cutaneous mastocytosis
krabbe disease
pyruvate dehydrogenase deficiency
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