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Inherited cancer syndromes and the thyroid: an update.
[cowden syndrome]
Knowledge
related
to
hereditary
thyroid
cancer
syndromes
has
expanded
enormously
.
This
review
identifies
contributions
that
have
changed
approaches
to
diagnosis
and
broadened
treatment
options
for
patients
with
hereditary
medullary
and
nonmedullary
thyroid
cancers
related
to
multiple
endocrine
neoplasia
type
2
(
MEN
2
)
,
Cowden
syndrome
,
and
familial
adenomatous
polyposis
(
FAP
)
.
A
new
risk-stratification
scheme
based
on
type
of
RET
gene
mutation
informs
the
age
at
which
prophylactic
thyroidectomy
and
diagnostic
screening
for
MEN-associated
endocrine
diseases
should
occur
.
Two
new
US
Food
and
Drug
Administration
-approved
targeted
medical
therapies
are
now
available
for
medullary
thyroid
cancer
.
There
is
better
understanding
of
more
aggressive
clinical
features
and
increased
lifetime
cancer
risks
for
patients
with
well
differentiated
thyroid
cancers
as
part
of
families
with
and
without
Cowden
syndrome
or
FAP
.
This
has
led
to
a
clearer
appreciation
for
the
role
and
timing
of
thyroid
ultrasound
screening
in
these
populations
.
It
has
also
informed
the
appropriate
extent
of
thyroid
surgery
and
the
circumstances
in
which
prophylactic
thyroidectomy
is
reasonable
to
consider
as
part
of
hereditary
syndromes
other
than
MEN
2
.
R
ecognition
and
early
diagnosis
of
these
syndromes
allows
for
comprehensive
medical
care
and
may
improve
thyroid
cancer
-related
outcomes
.
Ultrasound-based
screening
programs
to
detect
thyroid
disease
are
advised
for
patients
and
family
members
with
hereditary
cancer
syndromes
.
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