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Proteus syndrome: Clinical diagnosis of a series of cases.
[proteus syndrome]
This
paper
describes
the
clinical
diagnosis
of
Proteus
syndrome
(
PS
)
in
children
referred
for
evaluation
of
asymmetric
disproportionate
overgrowth
.
Retrospective
,
descriptive
,
cross-sectional
study
conducted
from
January
1998
to
December
2010
.
During
the
study
period
,
2011
new
patients
were
evaluated
.
Thirteen
(
0
.
65
%
)
patients
presented
features
suggestive
of
PS
.
These
patients
were
formally
evaluated
based
on
the
revised
diagnostic
criteria
proposed
by
Biesecker
.
The
mean
age
was
6
.
92
±
5
.
1
years
.
Ten
patients
(
76
.
9
%
)
were
females
.
All
subjects
had
asymmetric
disproportionate
overgrowth
.
Other
dysmorphic
features
were
as
follows
:
macrodactily
(
84
.
6
%
)
;
linear
epidermal
nevus
(
41
.
6
%
)
;
hemangioma
(
30
.
7
%
)
;
and
lipoma
(
23
%
)
.
Six
patients
fulfilled
the
diagnostic
criteria
for
PS
.
T
he
diagnostic
rate
of
only
46
.
1
%
of
patients
with
PS
confirms
the
diagnostic
difficulties
and
the
need
for
continuous
monitoring
and
periodic
review
of
these
patients
since
the
clinical
manifestations
of
this
syndrome
become
more
evident
with
aging
.
Molecular
tests
may
help
the
differential
diagnosis
of
Proteus
syndrome
when
they
became
commercially
available
.
