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Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis.
[proteus syndrome]
The
hemihypertrophy
or
hemihyperplasy
is
a
rare
congenital
abnormality
,
characterized
by
an
asymmetric
growth
of
the
limbs
,
the
trunk
,
and
the
face
or
half
of
the
entire
body
.
It
may
be
isolated
or
be
part
of
several
syndromes
including
Beckwith-
Wiedemann
syndrome
,
Klippel-
Trenaunay-
Weber
syndrome
,
Silver-
Russell
syndrome
and
Proteus
syndrome
.
In
its
isolated
form
,
it
is
called
idiopathic
.
The
latter
may
be
associated
with
several
anomalies
including
dermatological
and
urogenital
abnormalities
with
increased
risk
of
developing
embryonal
tumors
.
We
report
the
case
of
a
22
-
month
-old
infant
,
who
was
referred
by
his
pediatrician
at
the
age
of
15
months
for
a
corporeal
hemihypertrophy
associated
with
hemihypertrichosis
.
In
his
medical
history
,
a
second
degree
parental
consanguinity
and
a
hypospadias
in
the
father
and
a
paternal
uncle
were
found
.
Clinical
examination
found
a
weight
and
a
size
greater
than
chronological
age
(
3
standard
deviations
)
,
a
hemihypertrophy
of
entire
left
side
with
a
difference
of
length
and
diameter
between
the
left
and
right
limbs
of
2
cm
.
The
hemihypertrichosis
was
widespread
in
the
left
body
and
the
genital
examination
found
a
hypospadias
.
Biological
and
radiological
assessments
did
not
show
any
abnormality
,
with
the
exception
of
an
initially
high
plasma
testosterone
level
,
which
gradually
normalized
.
Thus
,
the
diagnosis
of
idiopathic
hemihypertrophy
with
congenital
hemihypertrichosis
was
retained
.
This
is
the
fourth
case
reported
in
the
literature
.
Its
management
is
similar
to
all
hemihypertrophies
,
which
consists
of
an
initial
assessment
to
detect
an
embryonic
tumor
,
followed
by
a
monitoring
protocol
including
an
abdominal
and
renal
ultrasound
every
6
months
until
the
age
of
8
,
determination
of
alpha-feto-protein
every
6
to
12
weeks
until
the
age
of
4
years
to
track
the
development
of
the
two
most
frequent
tumors
:
Wilms
tumor
and
hepatoblastoma
.
The
hemihypertrophy
associated
with
hemihypertrichosis
has
been
exceptionally
reported
and
the
cause
of
this
association
has
not
been
identified
to
date
.
Diseases
Validation
Diseases presenting
"second degree"
symptom
proteus syndrome
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