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An insight into the genesis of hypohidrotic ectodermal dysplasia in a case report.
[oligodontia]
Hypohidrotic
(
anhidrotic
)
ectodermal
dysplasia
(
HED
)
is
a
congenital
syndrome
characterized
by
sparse
hair
,
oligodontia
,
and
reduced
sweating
.
It
is
estimated
to
affect
at
least
one
in
17000
people
worldwide
.
We
report
a
rare
case
of
HED
in
a
14
-
year
-old
male
child
patient
which
extraorally
manifested
as
alopecia
,
scanty
eyebrow
and
eye
lashes
,
frontal
bossing
,
depressed
nasal
bridge
,
and
full
and
everted
lips
.
Intraoral
examination
revealed
complete
anodontia
of
the
deciduous
teeth
and
partial
anodontia
of
the
permanent
teeth
.
It
is
usually
inherited
as
an
X-
linked
recessive
trait
caused
by
mutation
in
any
of
the
three
EDA
pathway
genes
.
X-
linked
and
autosomal
recessive
forms
are
phenotypically
similar
;
thus
,
identification
of
carriers
of
partial
forms
of
the
disorder
in
their
families
is
the
key
to
clarifying
intrafamilial
genetic
transmission
.
Diseases
Validation
Diseases presenting
"alopecia"
symptom
cadasil
congenital adrenal hyperplasia
cutaneous mastocytosis
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
lamellar ichthyosis
oligodontia
omenn syndrome
pleomorphic liposarcoma
proteus syndrome
werner syndrome
This symptom has already been validated