Summary
Cowden's disease, first described by Lloyd and Dennis in 1962, is a rare disseminated polyposis of the gastrointestinal tract with an autosomal
dominant inheritance pattern, infrequently cited in the contemporary gastroenterological
literature. In addition to multiple polyps, which are scattered throughout the gastrointestinal
tract from the mouth to the anus, orocutaneous hamartomas and frequent benign and
malignant cutaneous, thyroid and breast tumors are thought to represent the most common
manifestations of the disease. Ectodermal lesions are most frequently reported as
a salient feature, and represent the most consistent element in the definition of
this condition in the majority of cases, most of which are recorded in the dermatological
literature (multiple hamartoma syndrome or Cowden's disease). This article presents
four cases of Cowden's disease, the patients being members of two genetically unrelated
families. All four patients had disseminated polyposis of the gastrointestinal tract,
extending from the oral mucosa to the anus, while the cutaneous lesions and the concomitant
tumors were present either in a fully developed or only rudimentary form, or were
even absent, The authors propose that the term “disseminated hereditary gastrointestinal
polyposis with orocutaneous hamartomatosis” be introduced and consistently used in
the gastroenterological literature when referring to Cowden's disease, which seems
more common than previous reports in the literature would indicate.
Key words:
Polyposis - Orocutaneous Hamartomatosis - Gastrointestinal tract and polyposis - Cowden's
disease
