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PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
[cowden syndrome]
PTEN
hamartoma
tumor
syndromes
(
PHTS
)
are
a
spectrum
of
hamartomatous
overgrowth
syndromes
associated
with
germ-line
mutations
in
the
tumor
suppressor
PTEN
gene
located
on
10
q
23
.
3
.
It
is
widely
accepted
that
two
of
these
disorders
,
Cowden
syndrome
and
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
are
allelic
conditions
.
Because
PTEN
mutations
are
not
identifiable
in
every
case
of
the
PHTS
phenotype
,
the
inability
to
detect
a
mutation
within
the
PTEN
gene
does
not
invalidate
the
clinical
diagnosis
of
Cowden
syndrome
,
or
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
in
patients
who
meet
diagnostic
criteria
for
these
disorders
.
PTEN
mutations
are
associated
with
an
increased
risk
for
developing
breast
,
thyroid
,
endometrial
,
and
sometimes
renal
cancers
.
Thus
,
cancer
surveillance
is
the
cornerstone
of
PHTS
patient
management
.
Although
a
consensus
cancer
surveillance
protocol
has
not
been
formally
instituted
,
all
PTEN
mutation
carriers
should
adopt
the
cancer
surveillance
strategies
proposed
for
patients
with
Cowden
syndrome
.
In
addition
,
because
gastrointestinal
and
vascular
complications
can
be
more
severe
in
Bannayan-
Riley
-
Ruvalcaba
syndrome
than
in
Cowden
syndrome
,
patients
with
Bannayan-
Riley
-
Ruvalcaba
syndrome
should
be
monitored
from
this
point
of
view
too
.
In
this
study
,
we
report
on
two
cases
with
Bannayan-
Riley
-
Ruvalcaba
phenotype
that
showed
two
different
PTEN
mutations
.
We
also
propose
practice
recommendations
for
management
of
PHTS
patients
.
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