title: [Cowden syndrome diagnosed in patients with macrocephaly].
abstract: 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.
authors.affiliation: Klinisk Genetisk Afdeling, Vejle Sygehus, Sygehus Lillebælt, Kabbeltoft 25, 7100 Vejle. anskyt@rm.dk.
authors.forename: Anne-Bine
authors.initials: AB
authors.lastname: Skytte
authors.forename: Anders
authors.initials: A
authors.lastname: Bojesen
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
mesh_terms: D000328:Adult; D002508:Cephalometry; D005260:Female; D020022:Genetic Predisposition to Disease; D006042:Goiter / Q000175:diagnosis; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000473:pathology; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis; D008875:Middle Aged; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D014860:Warts / Q000175:diagnosis
chemical_list: D051059:PTEN Phosphohydrolase