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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
.
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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