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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated