[Cowden syndrome diagnosed in patients with macrocephaly].

Abstract excerpt

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.

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