Rare Diseases Symptoms Automatic Extraction
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Non-herlitz junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
Non-
Herlitz
junctional
epidermolysis
bullosa
(
nH
JEB
)
is
characterized
by
generalized
blisters
that
predominate
in
sites
exposed
to
friction
,
trauma
,
or
heat
.
Whereas
infants
and
children
with
nH
JEB
often
appear
to
resemble
patients
with
other
forms
of
EB
,
adults
with
this
disorder
typically
display
atrophic
scars
,
hypopigmentation
,
or
hyperpigmentation
at
sites
of
healed
blisters
as
well
as
incomplete
alopecia
,
dystrophic
nails
,
mucous
membrane
involvement
,
and
dental
abnormalities
.
Mild
(
or
severe
)
disease
early
in
life
may
be
characterized
by
the
opposite
phenotype
in
adults
with
nH
JEB
.
Although
nH
JEB
is
generally
less
severe
than
Herlitz
disease
,
fatalities
(
especially
in
neonates
)
are
not
uncommon
among
patients
with
the
former
diagnosis
.
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