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Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
[dystrophic epidermolysis bullosa]
Epidermolysis
bullosa
(
EB
)
is
a
rare
and
so
far
incurable
genetic
disease
,
affecting
mainly
the
skin
and
mucosal
membranes
,
manifesting
with
blisters
triggered
by
minor
mechanical
trauma
.
Since
only
few
epidemiological
data
on
EB
are
available
,
we
established
a
Registry
for
EB
and
implemented
molecular
diagnostic
methods
.
We
present
epidemiologic
data
from
the
EB
Registry
and
genotype-phenotype
correlations
.
In
2006
,
a
registry
of
patients
with
EB
was
initiated
in
the
Department
of
Dermatology
of
the
University
of
Medicine
,
as
well
as
molecular
diagnostic
tools
.
The
patients
were
diagnosed
on
clinical
bases
,
and
whenever
possible
,
immunofluorescence
mapping
and
molecular
analysis
were
performed
.
89
EB
patients
were
enrolled
in
the
study
from
2006
to
2012
:
58
patients
with
dystrophic
EB
(
DEB
)
,
20
with
EB
simplex
,
one
patient
was
diagnosed
with
Kindler
syndrome
;
in
10
patients
,
the
type
of
EB
could
not
be
determined
.
We
have
estimated
,
the
total
number
of
EB
patients
in
Romania
and
we
have
estimated
the
incidence
and
the
prevalence
of
EB
.
We
have
also
managed
to
approximate
the
distribution
of
EB
types
in
Romania
.
Moreover
,
we
performed
a
phenotypic
and
genotypic
characterization
in
some
of
the
patients
included
in
the
EB
register
.
Diseases
Validation
Diseases presenting
"blisters"
symptom
cutaneous mastocytosis
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
junctional epidermolysis bullosa
kindler syndrome
This symptom has already been validated
