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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 diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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