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Corneal confocal microscopy anomalies associated with cowden syndrome: a case report.
[cowden syndrome]
To
describe
bilateral
corneal
alterations
through
confocal
microscopy
in
a
patient
affected
by
Cowden
syndrome
(
CS
)
.
Evaluation
of
Schirmer
's
,
fluorescein
,
and
lissamine
green
dye
tests
.
Confocal
microscopy
was
performed
in
both
eyes
to
investigate
corneal
abnormalities
.
Slit
lamp
observation
showed
the
focal
involvement
of
anterior
stromal
and
epithelial
layers
.
Schirmer
's
,
fluorescein
,
and
lissamine
green
dye
test
results
were
regular
,
while
corneal
confocal
examination
confirmed
the
disorganization
of
anterior
stromal
and
epithelial
layers
in
both
eyes
.
CS
is
a
rare
autosomal-dominant
systemic
disorder
.
In
our
case
,
confocal
analysis
revealed
predominance
of
alterations
in
the
anterior
stromal
corneal
layer
,
showing
an
increase
of
reflectivity
,
and
a
totally
unstructured
architecture
in
the
epithelium
layer
.
Even
though
the
main
purpose
remains
the
prevention
and
the
early
diagnosis
of
different
systemic
tumors
that
could
occur
in
affected
patients
,
corneal
confocal
evaluation
could
play
an
important
role
in
the
early
diagnosis
of
this
rare
disease
.
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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