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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
"nevus"
symptom
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
kabuki syndrome
lamellar ichthyosis
liposarcoma
malignant atrophic papulosis
oculocutaneous albinism
proteus syndrome
sneddon syndrome
This symptom has already been validated