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Bloom syndrome.
[erythropoietic protoporphyria]
Bloom
Syndrome
(
BS
,
MIM
#
210900
)
is
an
autosomal
recessive
genetic
disorder
caused
by
a
mutation
in
the
BLM
gene
,
which
codes
for
the
DNA
repair
enzyme
RecQL
3
helicase
.
Without
proper
DNA
repair
mechanisms
,
abnormal
DNA
exchange
takes
place
between
sister
chromatids
and
results
in
genetic
instability
that
may
lead
to
cancer
,
especially
lymphoma
and
acute
myelogenous
leukemia
,
lower
and
upper
gastrointestinal
tract
neoplasias
,
cutaneous
tumors
,
and
neoplasias
in
the
genitalia
and
urinary
tract
.
BS
patients
are
usually
of
Ashkenazi
Jewish
descent
and
exhibit
narrow
facial
features
,
elongated
limbs
,
and
several
dermatologic
complications
including
photosensitivity
,
poikiloderma
,
and
telangiectatic
erythema
.
The
most
concerning
manifestation
of
BS
is
multiple
malignancies
,
which
require
frequent
screenings
and
strict
vigilance
by
the
physician
.
Therefore
,
distinguishing
between
BS
and
other
dermatologic
syndromes
of
similar
presentation
such
as
Rothmund-
Thomson
Syndrome
,
Erythropoietic
Protoporphyria
,
and
Cockayne
Syndrome
is
paramount
to
disease
management
and
to
prolonging
life
.
BS
can
be
diagnosed
through
a
variety
of
DNA
sequencing
methods
,
and
genetic
testing
is
available
for
high
-risk
populations
.
This
review
consolidates
several
sources
on
BS
sequelae
and
aims
to
suggest
the
importance
of
differentiating
BS
from
other
dermatologic
conditions
.
This
paper
also
elucidates
the
recently
discovered
BRAFT
and
FANCM
protein
complexes
that
link
BS
and
Fanconi
anemia
.
Diseases
Validation
Diseases presenting
"multiple malignancies"
symptom
cowden syndrome
erythropoietic protoporphyria
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