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Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.
[malignant atrophic papulosis]
Galli-
Galli
disease
(
GGD
)
is
a
rare
genodermatosis
.
Its
clinical
presentation
is
identical
to
that
of
Dowling-
Degos
disease
(
DDD
)
,
but
the
presence
of
the
histopathological
feature
of
acantholysis
in
GGD
is
thought
to
distinguish
the
two
disorders
.
Mutations
in
the
keratin
5
gene
(
KRT
5
)
have
been
identified
in
the
majority
of
patients
with
DDD
and
in
a
small
number
of
patients
with
GGD
.
To
provide
further
support
for
the
hypothesis
that
GGD
is
merely
a
variant
of
DDD
,
and
to
examine
whether
acantholysis
is
genuinely
rare
in
DDD
or
rather
a
common
but
under-reported
histological
feature
of
DDD
.
We
conducted
the
first
systematic
mutational
investigation
of
patients
with
GGD
and
re
-examined
the
histopathology
of
patients
previously
assigned
a
diagnosis
of
DDD
.
For
the
mutational
investigation
,
KRT
5
was
sequenced
in
seven
unrelated
patients
with
clinically
and
histopathologically
confirmed
GGD
.
In
addition
,
the
histopathological
findings
of
six
patients
with
DDD
were
re
-evaluated
.
The
mutation
c
.
418
dupA
was
found
in
five
patients
with
GGD
.
The
typical
histopathological
features
of
GGD
were
identified
in
six
patients
who
had
previously
been
assigned
a
diagnosis
of
DDD
.
We
found
further
evidence
to
suggest
that
GGD
is
indeed
a
variant
of
DDD
and
not
a
distinct
disease
entity
.
Two
facts
in
particular
support
this
conclusion
:
the
same
KRT
5
mutation
was
found
in
patients
with
GGD
and
in
patients
with
DDD
,
and
acantholysis
seems
to
be
present
in
a
large
number
of
patients
who
had
previously
been
assigned
a
diagnosis
of
DDD
.
Diseases
Validation
Diseases presenting
"large number"
symptom
acute rheumatic fever
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
canavan disease
coats disease
cowden syndrome
dedifferentiated liposarcoma
dracunculiasis
epidermolysis bullosa simplex
fabry disease
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
kindler syndrome
legionellosis
malignant atrophic papulosis
neuralgic amyotrophy
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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