Rare Diseases Symptoms Automatic Extraction
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Retrospective diagnosis of Kindler syndrome in a 37-year-old man.
[kindler syndrome]
Kindler
syndrome
is
a
rare
autosomal
recessive
disorder
characterized
by
acral
blisters
in
infancy
and
early
childhood
,
followed
by
photosensitivity
,
progressive
poikiloderma
and
cutaneous
atrophy
.
Other
features
include
webbing
of
the
toes
and
fingers
,
palmoplantar
hyperkeratosis
,
gingival
fragility
,
poor
dentition
,
and
mucosal
involvement
in
the
form
of
urethral
,
anal
and
oesophageal
stenosis
.
The
recent
finding
of
KIND
1
mutations
in
Kindler
syndrome
facilitates
early
diagnosis
,
prophylactic
measures
and
more
precise
definition
of
the
phenotype
.
In
the
family
described
here
,
molecular
diagnosis
of
Kindler
syndrome
in
an
infant
with
acral
blisters
led
to
the
belated
diagnosis
in
a
severely
affected
relative
whose
condition
had
remained
unidentified
for
37
years
.
Diseases
Validation
Diseases presenting
"photosensitivity"
symptom
cholangiocarcinoma
erythropoietic protoporphyria
inclusion body myositis
kindler syndrome
This symptom has already been validated