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Kabuki syndrome: a new case associated with Becker nevus.
[kabuki syndrome]
Kabuki
syndrome
or
Kabuki
makeup
syndrome
was
first
described
in
1981
in
Japan
by
two
different
groups
of
authors
.
These
investigators
described
a
group
of
patients
sharing
typical
facial
features
,
skeletal
anomalies
,
mental
retardation
,
short
stature
,
and
dermatoglyphic
anomalies
.
The
term
Kabuki
makeup
syndrome
was
coined
because
the
peculiar
facial
features
of
the
patients
were
reminiscent
of
the
Japanese
Kabuki
theater
masks
.
In
1988
,
Niikawa
et
al
,
after
studying
62
patients
,
proposed
five
diagnostic
criteria
for
this
disease
:
peculiar
facies
(
in
100
%
of
all
patients
)
,
skeletal
anomalies
(
92
%
)
,
dermatoglyphic
anomalies
(
93
%
)
,
medium
to
moderate
mental
retardation
(
92
%
)
,
and
short
stature
(
83
%
of
all
cases
)
.
In
addition
to
these
findings
,
a
variety
of
anomalies
have
been
associated
with
this
syndrome
-
the
most
serious
being
cardiac
,
renal
,
and
urogenital
abnormalities
.
We
present
a
case
of
Kabuki
syndrome
in
a
6
-
year
-old
boy
who
,
in
addition
to
the
various
features
typical
of
the
disease
,
also
exhibited
a
Becker
nevus
-
a
condition
not
previously
associated
with
this
syndrome
.
The
usefulness
of
dermoscopy
in
studying
alterations
in
the
dermatoglyphic
patterns
is
also
discussed
.
Diseases
Validation
Diseases presenting
"urogenital abnormalities"
symptom
kabuki syndrome
proteus syndrome
This symptom has already been validated