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Rothmund-Thomson syndrome.
[kindler syndrome]
Rothmund-
Thomson
syndrome
(
RTS
)
is
a
genodermatosis
presenting
with
a
characteristic
facial
rash
(
poikiloderma
)
associated
with
short
stature
,
sparse
scalp
hair
,
sparse
or
absent
eyelashes
and
/
or
eyebrows
,
juvenile
cataracts
,
skeletal
abnormalities
,
radial
ray
defects
,
premature
aging
and
a
predisposition
to
cancer
.
The
prevalence
is
unknown
but
around
300
cases
have
been
reported
in
the
literature
so
far
.
The
diagnostic
hallmark
is
facial
erythema
,
which
spreads
to
the
extremities
but
spares
the
trunk
,
and
which
manifests
itself
within
the
first
year
and
then
develops
into
poikiloderma
.
Two
clinical
subforms
of
RTS
have
been
defined
:
RTSI
characterised
by
poikiloderma
,
ectodermal
dysplasia
and
juvenile
cataracts
,
and
RTSII
characterised
by
poikiloderma
,
congenital
bone
defects
and
an
increased
risk
of
osteosarcoma
in
childhood
and
skin
cancer
later
in
life
.
The
skeletal
abnormalities
may
be
overt
(
frontal
bossing
,
saddle
nose
and
congenital
radial
ray
defects
)
,
and
/
or
subtle
(
visible
only
by
radiographic
analysis
)
.
Gastrointestinal
,
respiratory
and
haematological
signs
have
been
reported
in
a
few
patients
.
RTS
is
transmitted
in
an
autosomal
recessive
manner
and
is
genetically
heterogeneous
:
RTSII
is
caused
by
homozygous
or
compound
heterozygous
mutations
in
the
RECQL
4
helicase
gene
(
detected
in
60
-
65
%
of
RTS
patients
)
,
whereas
the
aetiology
in
RTSI
remains
unknown
.
Diagnosis
is
based
on
clinical
findings
(
primarily
on
the
age
of
onset
,
spreading
and
appearance
of
the
poikiloderma
)
and
molecular
analysis
for
RECQL
4
mutations
.
Missense
mutations
are
rare
,
while
frameshift
,
nonsense
mutations
and
splice-site
mutations
prevail
.
A
fully
informative
test
requires
transcript
analysis
not
to
overlook
intronic
deletions
causing
missplicing
.
The
diagnosis
of
RTS
should
be
considered
in
all
patients
with
osteosarcoma
,
particularly
if
associated
with
skin
changes
.
The
differential
diagnosis
should
include
other
causes
of
childhood
poikiloderma
(
including
dyskeratosis
congenita
,
Kindler
syndrome
and
Poikiloderma
with
Neutropaenia
)
,
other
rare
genodermatoses
with
prominent
telangiectasias
(
including
Bloom
syndrome
,
Werner
syndrome
and
Ataxia-
telangiectasia
)
and
the
allelic
disorders
,
RAPADILINO
syndrome
and
Baller-
Gerold
syndrome
,
which
also
share
some
clinical
features
.
A
few
mutations
recur
in
all
three
RECQL
4
diseases
.
Genetic
counselling
should
be
provided
for
RTS
patients
and
their
families
,
together
with
a
recommendation
for
cancer
surveillance
for
all
patients
with
RTSII
.
Patients
should
be
managed
by
a
multidisciplinary
team
and
offered
long
term
follow-up
.
Treatment
includes
the
use
of
pulsed
dye
laser
photocoagulation
to
improve
the
telangiectatic
component
of
the
rash
,
surgical
removal
of
the
cataracts
and
standard
treatment
for
individuals
who
develop
cancer
.
Although
some
clinical
signs
suggest
precocious
aging
,
life
expectancy
is
not
impaired
in
RTS
patients
if
they
do
not
develop
cancer
.
Outcomes
in
patients
with
osteosarcoma
are
similar
in
RTS
and
non-
RTS
patients
,
with
a
five
-
year
survival
rate
of
60
-
70
%
.
The
sensitivity
of
RTS
cells
to
genotoxic
agents
exploiting
cells
with
a
known
RECQL
4
status
is
being
elucidated
and
is
aimed
at
optimizing
the
chemotherapeutic
regimen
for
osteosarcoma
.
Diseases
Validation
Diseases presenting
"prominent telangiectasias"
symptom
kindler syndrome
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