Cowden’s disease: A case report and review of the literature (EN)

., C.K. Mavrogiannis

Despina T. Papadeli, D.J. Psilopoulos, I.G. Elefsiniotis,, S.S. Goulas, D.G. Papaioannou,

SUMMARY Cowden’s syndrome, or multiple hamartoma syndrome, is a rare inherited disease with characteristic mucocutaneous lesions associated with multiple polyps of the gastrointestinal tract and abnormalities of the breast and thyroid gland. Cowden’s disease carries a high risk of development of malignancies, especially of breast and thyroid. Rarely malformations and abnormalities occur in the skeletal system, central nervous system and urogenital tract. Cowden’s disease is included in the gastrointestinal (GI) polyposis syndromes. Multiple, usually non-adenomatous polyps throughout the GI tract, associated with skin and oral papules and oesophageal glycogenic acanthosis are considerd pathognomonic signs for diagnosis. We present a case of a 48 yr-old Greek female with Cowden’s disease. The patient had facial papules, multiple GI hyperplastic polyps, oesophageal glycogenic acanthosis, goiter and had developed breast cancer two years previous to diagnosis. Gastroenterologists have to be aware of and recognize this unusual clinical entity because of its correlation with malignant tumors of the breast and thyroid. Key words: Cowden’s disease, Hamartoma, Hyperplastic polyp, PTEN gene, Gastrointestinal polyposis syndromes (EN)

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Ελληνική Γαστροεντερολογική Εταιρία

Annals of Gastroenterology

Case Reports

Αγγλική γλώσσα

2007-03-19

http://www.annalsgastro.gr/index.php/annalsgastro/article/view/190

Hellenic Society of Gastroenterology (EN)

1792-7463

1108-7471

Annals of Gastroenterology; Volume 16, No 1 (2003) (EN)