Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Diffuse idiopathic skeletal hyperostosis and familial hypocalciuric hypercalcemia: a unique association in a young female.
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
a
cause
of
lifelong
hypercalcemia
resulting
from
inactivated
mutations
in
the
calcium
sensing
receptor
gene
.
Diffuse
idiopathic
skeletal
hyperostosis
(
DISH
)
is
an
under
diagnosed
condition
that
leads
to
ossification
of
ligaments
and
entheses
of
the
spine
and
peripheral
skeleton
.
We
describe
a
45
-
year
-old
diabetic
woman
with
hypercalcemia
secondary
to
FHH
who
developed
dysphagia
because
of
external
esophageal
compression
from
DISH
.
The
patient
had
no
additional
identifiable
risk
factors
for
DISH
except
for
diabetes
mellitus
.
An
association
between
FHH
and
DISH
has
not
been
previously
reported
.
Although
most
cases
of
hypercalcemia
are
found
to
have
decreased
bone
mineralization
,
inactivation
of
calcium
sensing
receptor
may
induce
a
promitogenic
response
to
hypercalcemia
resulting
in
increased
bone
density
.
However
,
a
causal
association
between
FHH
and
DISH
remains
unproven
.
Diseases
Validation
Diseases presenting
"diabetes mellitus"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
child syndrome
cholangiocarcinoma
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
malignant atrophic papulosis
neuralgic amyotrophy
pyomyositis
sneddon syndrome
typhoid
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated