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[Clinical observations in cutan mastocytosis].
[cutaneous mastocytosis]
Mastocytosis
is
a
clonal
mast
cell
proliferative
disease
,
divided
into
cutaneous
and
systemic
forms
.
The
characteristic
symptoms
are
caused
by
neoplastic
mast
cell
infiltrations
in
different
organs
and
/
or
the
release
of
mediators
.
The
aim
of
the
authors
was
to
summarize
their
clinical
observations
in
patients
with
mastocytosis
.
22
adult
patients
diagnosed
consecutively
with
mastocytosis
were
enrolled
in
the
study
.
Skin
and
bone
marrow
biopsies
were
taken
to
establish
the
diagnosis
and
perform
c-
KIT
mutation
(
D
816
V
)
analysis
.
One
of
the
22
patients
had
teleangiectasia
macularis
eruptiva
perstans
,
while
20
/
22
patients
had
urticaria
pigmentosa
.
All
patients
had
cutaneous
lesions
.
In
12
patients
iliac
crest
biopsy
was
performed
and
9
of
them
had
bone
marrow
involvement
,
classified
as
indolent
systemic
mastocytosis
.
The
c-kit
mutation
D
816
V
was
found
in
one
subject
both
in
skin
and
bone
marrow
samples
.
The
patients
were
treated
with
antihistamine
,
PUVA
,
interferon-α
or
imatinib
.
The
authors
draw
attention
to
this
rare
disease
in
order
to
help
recognition
of
relevant
signs
and
symptoms
and
establish
an
early
diagnosis
.
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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