Disseminated Hereditary Gastrointestinal Polyposis with Orocutaneous Hamartomatosis (Cowden's Disease)

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