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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
"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