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Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
an
autosomal
dominant
disorder
that
results
from
a
deficiency
of
ferrochelatase
(
FECH
)
,
the
last
enzyme
in
the
heme
biosynthetic
pathway
.
The
characteristic
clinical
symptoms
usually
manifest
in
early
childhood
on
the
sun-exposed
areas
of
the
body
.
They
are
due
to
protoporphyrin-induced
photosensitivity
and
include
pain
,
burning
and
stinging
of
the
skin
,
followed
by
erythema
and
edema
.
Recently
,
the
occurrence
of
predominantly
seasonal
palmar
and
palmoplantar
keratoderma
in
patients
with
homozygous
mutations
in
the
FECH
gene
has
been
reported
.
These
data
suggested
that
palmoplantar
keratoderma
might
be
a
clinical
sign
of
EPP
.
Palmoplantar
keratodermas
(
PPKs
)
are
a
heterogeneous
group
of
genetic
skin
diseases
and
include
a
seasonal
variant
,
erythrokeratolysis
hiemalis
et
estivalis
(
EH
)
,
also
known
as
keratolytic
winter
erythema
.
Because
the
skin
symptoms
in
the
latter
disorder
are
similar
to
those
reported
for
recessive
EPP
we
examined
the
FECH
gene
in
three
unrelated
Dutch
Caucasian
patients
with
a
previous
diagnosis
of
EH
in
whom
mutations
in
several
other
genes
had
been
excluded
.
However
,
sequencing
analysis
of
the
entire
coding
regions
and
the
adjacent
splice
sites
of
the
FECH
gene
in
these
individuals
revealed
absence
of
mutations
.
Hence
,
our
data
largely
exclude
the
possibility
that
FECH
mutations
might
be
responsible
for
the
palmoplantar
skin
phenotype
observed
in
EH
.
Diseases
Validation
Diseases presenting
"several other genes"
symptom
erythropoietic protoporphyria
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