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Monozygotic twins discordant for vascular malformations and dysregulated growth.
[proteus syndrome]
There
is
a
large
group
of
disorders
characterized
by
non-
cranial
vascular
malformations
and
a
dysregulated
growth
,
of
which
the
prototype
may
be
Klippel-
Trenaunay
syndrome
(
KTS
)
.
The
aetiology
of
KTS
and
vascular
malformations-dysregulated
growth
(
VM-DG
)
syndromes
resembling
KTS
is
obscure
,
but
polygenic
paradominant
inheritance
involving
mutations
or
polymorphisms
in
two
or
more
genes
simultaneously
,
of
which
one
(
or
more
)
are
involved
in
(
lymph
)
angiogenesis
and
the
other
(
s
)
in
growth
regulation
has
been
proposed
for
KTS
and
related
VM-DG
entities
.
This
provides
an
explanation
for
the
variability
of
the
VM-DG
syndromes
through
the
numerous
possible
combinations
of
mutated
genes
involved
.
We
report
on
three
monozygotic
female
twins
who
are
discordant
for
a
VM-DG
syndrome
resembling
KTS
.
We
suggest
that
our
observation
is
consistent
with
the
concept
of
polygenic
paradominant
inheritance
involving
two
or
more
genes
.
We
discuss
the
published
observations
in
twins
discordant
for
other
disorders
associated
with
disturbed
growth
regulation
such
as
Beckwith-
Wiedemann
syndrome
and
Silver-
Russell
syndrome
,
and
the
occurrence
in
cousins
with
KTS
and
Beckwith-
Wiedemann
syndrome
,
which
are
best
explained
by
an
imprinting
disturbance
.
We
propose
that
,
similarly
,
disturbed
imprinting
plays
a
role
in
the
pathogenesis
of
VM-DG
syndromes
in
general
,
and
suggest
the
same
may
hold
for
KTS
in
sensu
strictu
or
Proteus
syndrome
.
Further
studies
to
investigate
imprinting
status
in
VM-DG
syndromes
,
including
KTS
and
Proteus
syndrome
,
are
warranted
.
Diseases
Validation
Diseases presenting
"growth regulation"
symptom
cowden syndrome
harlequin ichthyosis
proteus syndrome
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