Rare Diseases Symptoms Automatic Extraction
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[Cowden syndrome diagnosed in patients with macrocephaly.]
[cowden syndrome]
Cowden
syndrome
is
a
rare
autosomal
dominant
syndrome
with
a
predisposition
to
cancer
.
We
present
a
case
of
Cowden
syndrome
in
a
mother
and
her
son
,
who
were
diagnosed
with
palmoplantar
hyperkeratosis
,
macrocephaly
and
goitre
.
Early
diagnosis
is
a
challenge
as
the
patients
present
with
a
variety
of
symptoms
,
but
it
is
important
because
of
the
risk
of
cancer
.
