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

Authors S.S. Goulas, D.G. Papaioannou, Despina T. Papadeli, D.J. Psilopoulos, I.G. Elefsiniotis,, C.K. Mavrogiannis ..


Cowdens 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. Cowdens 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.
Cowdens 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 Cowdens
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: Cowdens disease, Hamartoma, Hyperplastic
polyp, PTEN gene, Gastrointestinal polyposis syndromes
Case Reports