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PTEN hamartoma tumor syndrome: an overview.
[proteus syndrome]
PTEN
hamartoma
tumor
syndrome
(
PHTS
)
encompasses
four
major
clinically
distinct
syndromes
associated
with
germline
mutations
in
the
tumor
suppressor
PTEN
.
These
allelic
disorders
,
Cowden
syndrome
,
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
Proteus
syndrome
,
and
Proteus-like
syndrome
are
associated
with
unregulated
cellular
proliferation
leading
to
the
formation
of
hamartomas
.
Thus
far
,
an
increased
risk
of
malignancy
has
only
been
documented
in
Cowden
syndrome
;
however
,
current
recommendations
advise
that
all
individuals
with
PTEN
hamartoma
tumor
syndrome
follow
the
cancer
surveillance
strategies
suggested
for
Cowden
syndrome
until
further
data
indicate
otherwise
.
Because
any
individual
phenotypic
feature
of
Cowden
syndrome
and
Bannayan-
Riley
-
Ruvalcaba
syndrome
are
frequently
present
in
the
general
population
,
many
individuals
often
go
undiagnosed
and
consequently
do
not
benefit
from
available
cancer
surveillance
strategies
.
Therefore
,
it
is
critical
for
clinicians
to
recognize
the
phenotypic
features
associated
with
these
syndromes
to
accurately
diagnose
and
provide
preventative
care
.
This
overview
details
the
clinical
description
of
the
PTEN
hamartoma
tumor
syndrome
and
associated
disorders
,
their
diagnosis
and
molecular
/
genetic
testing
,
as
well
as
differential
diagnosis
for
assessment
of
other
hamartoma
-associated
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