Rare Diseases Symptoms Automatic Extraction
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Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome).
[papillon-lefèvre syndrome]
A
16
-
year
-old
female
who
was
diagnosed
with
palmar
-
plantar
keratosis
and
Papillon-
Lefevre
syndrome
in
life
died
following
a
period
of
stress
/
affray
.
Autopsy
examination
revealed
evidence
of
minor
trauma
and
a
grossly
abnormal
heart
.
The
heart
was
sent
fresh
and
intact
to
a
cardiac
pathologist
for
examination
.
This
revealed
a
dilated
cardiomyopathy
with
left
ventricular
fibrosis
,
without
fatty
infiltration
of
the
right
ventricle
.
The
features
were
in
keeping
with
Carvajal
syndrome
,
a
variant
of
Naxos
disease
.
This
rare
cardiac
pathology
and
the
interaction
between
stress
(
physiological
,
psychological
and
traumatic
)
and
natural
disease
are
discussed
.
The
role
of
prompt
referral
for
cardiac
pathology
assessment
and
association
with
the
genodermatoses
is
also
considered
.
