Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Shedding light on a painful rash.
[erythropoietic protoporphyria]
We
present
a
case
of
a
rare
inherited
disorder--
erythropoietic
protoporphyria
--with
typical
clinical
manifestations
.
The
diagnosis
was
suspected
on
the
basis
of
a
history
of
a
light-sensitive
rash
and
characteristic
liver
biopsy
,
and
confirmed
with
genetic
testing
.
The
patient
was
followed
up
for
more
than
20
years
,
and
ultimately
developed
the
uncommon
associated
complication
of
liver
cirrhosis
.
The
clinical
features
,
pathogenesis
and
management
of
erythropoietic
protoporphyria
are
discussed
herein
.
Diseases
Validation
Diseases presenting
"liver cirrhosis"
symptom
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
cholangiocarcinoma
erythropoietic protoporphyria
hirschsprung disease
locked-in syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
This symptom has already been validated
