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[Inherited skin diseases - a review of selected genodermatoses].
[kindler syndrome]
Inherited
distubances
in
skin
structure
and
its
function
are
the
main
cause
of
diseases
classified
as
genodermatoses
.
The
following
clinical
entities
are
classified
as
genodermatoses
:
epidermolysis
bullosa
,
keratotic
disorders
,
disorders
of
skin
color
,
ectodermal
genodermatoses
,
genodermatoses
associated
with
connective
tissue
,
vascular
genodermatoses
and
genodermatoses
with
skin
manifestation
and
elevated
cancer
risk
.
One
of
the
most
clinically
heterogenous
group
of
genodermatoses
,
is
epidermolysis
bullosa
.
Four
main
subtypes
were
described
:
simplex
,
dystrophic
,
junctional
and
Kindler
syndrome
.
These
diseases
are
caused
by
mutations
in
the
genes
encoding
proteins
forming
junctions
between
the
dermis
and
epidermis
(
eg
.
COL
7
A
1
,
COL
17
A
1
,
KRT
14
,
KRT
5
or
genes
coding
for
332
laminin
)
.
They
are
inherited
in
an
autosomal
recessive
or
dominant
manner
.
The
disease
that
is
inherited
as
a
dominant
,
sex
dependent
trait
,
is
incontinenia
pigmenti
(
Bloch-
Sulzberger
syndrome
)
characterized
by
the
presence
of
extensive
pigmentation
changes
already
in
the
neonatal
period
.
In
patients
with
incontinenia
pigmenti
,
mutations
in
the
NEMO
gene
are
found
.
The
protein
encoded
by
NEMO
is
involved
in
the
negative
regulation
of
activity
of
the
NFκB
transcription
factor
that
is
responsible
for
apoptosis
and
cell
proliferation
control
.
In
the
regulation
of
cell
proliferation
,
the
neurofibromin
(
NF
1
)
-
the
suppressor
of
RAS
/
MAPK
signaling
pathway
activity
,
is
also
involved
.
The
mutations
in
the
NF
1
gene
are
identified
in
neurofibromatosis
type
I
-
a
genodermatosis
with
higher
risk
of
cancer
development
and
tumor
formation
.
Herein
,
a
review
of
selected
genodermatoses
in
the
context
of
their
molecular
pathology
is
presented
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated