Rare Diseases Symptoms Automatic Extraction
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Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa.
[cutaneous mastocytosis]
A
10
-
month
-old
boy
presented
with
a
history
of
a
generalized
cutaneous
bullous
eruption
since
3
months
of
age
.
Emesis
,
flush
,
pruritus
,
and
fatigue
had
accompanied
relapsing
episodes
of
sometimes
extensive
blistering
.
Histopathology
showed
dense
dermal
infiltrates
of
mast
cells
on
hematoxylin
and
eosin
and
corroborating
immunohistochemical
staining
.
Laboratory
examination
revealed
a
markedly
high
level
of
serum
tryptase
.
Based
on
these
results
and
after
consecutive
staging
,
the
patient
was
diagnosed
with
diffuse
cutaneous
bullous
mastocytosis
(
BM
)
.
Mutation
analysis
detected
a
deletion
mutation
(
del
419
)
in
C-Kit
by
direct
exon
sequencing
.
This
rare
entity
must
be
considered
in
the
differential
diagnosis
whenever
a
child
presents
with
bullae
and
erosions
.
A
crucial
diagnostic
hint
is
that
rubbing
of
affected
skin
areas
results
in
whealing
(
Darier
's
sign
)
.
A
comprehensive
diagnostic
approach
,
advanced
therapeutic
strategies
,
regular
follow-ups
,
and
instruction
of
patients
and
relatives
on
prevention
and
prophylaxis
are
highly
indicated
.
