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Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
with
mottled
pigmentation
(
EBS-
MP
)
is
an
autosomal
dominant
inherited
blistering
skin
disease
characterized
by
nonscarring
blistering
and
reticulated
hyperpigmentation
.
It
is
most
commonly
due
to
a
heterozygous
point
mutation
,
P
25
L
,
in
the
nonhelical
V
1
domain
of
keratin
5
(
KRT
5
)
.
Here
we
present
a
case
of
EBS-
MP
with
early
onset
of
reticulated
hyperpigmentation
during
infancy
due
to
a
rare
1649
delG
mutation
in
the
V
2
domain
of
KRT
5
.
Diseases
Validation
Diseases presenting
"skin disease"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
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