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Cowden syndrome: mucocutaneous lesions as precursors of internal malignancy.
[cowden syndrome]
Cowden
syndrome
is
an
autosomal-dominant
hereditary
cancer
syndrome
with
high
variability
and
susceptibility
.
It
is
characterized
by
multiple
hamartomas
and
neoplasms
of
ectodermal
,
endodermal
and
mesodermal
origin
affecting
many
organs
and
also
by
the
increased
risk
of
development
of
internal
malignancies
.
A
62
-
year
-old
woman
was
referred
to
our
Maxillofacial
Unit
with
a
hamartomatous
mass
of
the
left
lateral
tongue
which
had
slowly
grown
and
was
obstructing
normal
speech
and
restricting
oral
intake
.
The
patient
had
a
known
history
of
Cowden
syndrome
and
underwent
excision
of
the
lesion
under
general
anaesthetic
.
Orofacial
mucocutaneous
features
are
very
common
in
multiple
hamartoma
and
neoplasia
syndrome
with
almost
up
to
90
%
of
the
patients
being
affected
.
These
cutaneous
and
mucosal
lesions
,
which
are
predominantly
benign
,
often
manifest
prior
to
the
development
of
the
internal
malignant
tumours
associated
with
the
syndrome
.
The
prompt
identification
of
Cowden
syndrome
's
plethoric
signs
and
symptoms
can
lead
to
appropriate
surveillance
and
multidisciplinary
management
.
Oral
manifestations
are
frequent
,
prominent
and
usually
precede
the
establishment
of
malignant
tumours
of
visceral
organs
;
hence
,
the
maxillofacial
surgeon
or
general
dentist
may
have
a
significant
role
in
the
recognition
of
the
disease
.
Overall
prognosis
is
dependent
on
prevention
or
early
treatment
of
internal
malignancies
;
consequently
,
early
diagnosis
together
with
frequent
follow-up
forms
the
cornerstone
of
management
.
Diseases
Validation
Diseases presenting
"early treatment"
symptom
acute rheumatic fever
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
cowden syndrome
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
omenn syndrome
phenylketonuria
pyomyositis
scrub typhus
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