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Cutaneous mastocytosis, problems of clinical diagnosis of four cases.
[cutaneous mastocytosis]
Mastocytosis
is
a
rare
disease
characterized
by
a
pathological
increased
of
mast
cells
in
one
or
more
tissues
,
particularly
in
the
skin
,
bone
marrow
,
liver
,
spleen
,
lymph
nodes
and
gastrointestinal
tract
.
Cutaneous
mastocytosis
represents
over
90
%
of
cases
found
with
predilection
in
children
.
The
aim
of
the
paper
was
to
summarize
the
authors
'
clinical
,
histopathological
and
immunohistochemical
observations
on
patients
with
cutaneous
mastocytosis
.
We
present
four
cases
of
cutaneous
mastocytosis
,
sporadic
form
,
customized
by
clinical
presentation
and
age
of
onset
:
two
installed
in
the
neonatal
period
,
a
case
with
onset
in
infancy
and
another
in
adulthood
.
For
the
assessment
of
the
severity
and
the
effectiveness
of
the
treatment
,
we
used
SCORMA
Index
.
We
performed
in
each
patient
histopathological
examination
of
the
skin
(
Hematoxylin-
Eosin
and
Giemsa
stains
)
,
the
dosage
of
mediators
(
serum
tryptase
level
,
serum
histamine
levels
,
urinary
histamine
metabolites
)
and
the
balance
of
expansion
(
complete
blood
cell
count
,
liver
biological
investigations
,
abdominal
ultrasound
,
skeletal
radiography
,
chest
radiography
)
.
For
the
adult
with
mastocytosis
,
we
performed
abdominal
scanner
and
cytological
study
of
the
bone
marrow
.
Following
investigations
carried
out
in
each
case
,
we
mentioned
the
diagnosis
of
cutaneous
mastocytosis
,
and
also
excluded
several
diseases
confounded
by
clinically
and
histologically
aspect
.
Considering
the
fact
that
the
balance
expansion
was
negative
,
we
excluded
the
diagnosis
of
systemic
mastocytosis
.
The
presence
of
anemia
and
protein
energetic
malnutrition
in
children
with
mastocytosis
involves
carrying
out
balance
extension
for
the
exclusion
of
a
systemic
form
of
the
disease
.
Histopathological
examination
of
the
skin
using
special
stains
,
the
dosage
of
mediators
(
serum
tryptase
level
,
serum
histamine
levels
,
urinary
histamine
metabolites
)
and
balance
expansion
establish
the
diagnosis
of
cutaneous
mastocytosis
and
also
exclude
many
confusions
because
of
the
clinical
presentation
.
Diseases
Validation
Diseases presenting
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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