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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
"erythema"
symptom
acute rheumatic fever
cowden syndrome
cutaneous mastocytosis
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kindler syndrome
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
neuralgic amyotrophy
omenn syndrome
pyomyositis
thoracic outlet syndrome
This symptom has already been validated