[Cowden syndrome diagnosed in patients with macrocephaly]

Anne-Bine Skytte; Anders Bojesen; Anette Bygum

[Cowden syndrome diagnosed in patients with macrocephaly]

Ugeskr Laeger. 2014 Jan 20;176(2):165-7.

[Article in Danish]

Authors

Anne-Bine Skytte¹, Anders Bojesen, Anette Bygum

Affiliation

¹ Klinisk Genetisk Afdeling, Vejle Sygehus, Sygehus Lillebælt, Kabbeltoft 25, 7100 Vejle. [email protected].

PMID: 24629685

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.

Publication types

Case Reports

MeSH terms

Adult
Cephalometry
Female
Genetic Predisposition to Disease
Goiter / diagnosis
Hamartoma Syndrome, Multiple / diagnosis*
Hamartoma Syndrome, Multiple / genetics
Hamartoma Syndrome, Multiple / pathology
Humans
Keratoderma, Palmoplantar / pathology
Male
Megalencephaly / diagnosis
Middle Aged
Mutation
PTEN Phosphohydrolase / genetics
Warts / diagnosis

Substances

PTEN Phosphohydrolase