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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
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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