Gorensek M, Matko I, Skralovnik A, Rode M, Satler J, Jutersek A
Endoscopy. 1984 Mar;16(2):59-63. doi: 10.1055/s-2007-1018534.
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.
考登病由劳埃德和丹尼斯于1962年首次描述，是一种罕见的胃肠道弥漫性息肉病，呈常染色体显性遗传模式，在当代胃肠病学文献中很少被提及。除了散在于从口腔到肛门的整个胃肠道的多个息肉外，口周皮肤错构瘤以及常见的皮肤、甲状腺和乳腺的良性及恶性肿瘤被认为是该病最常见的表现。外胚层病变作为一个显著特征最为常见，并且在大多数病例中是该疾病定义中最一致的要素，其中大多数记录在皮肤病学文献中（多发性错构瘤综合征或考登病）。本文介绍了4例考登病患者，这些患者来自两个无遗传关系的家庭。所有4例患者均有从口腔黏膜到肛门的胃肠道弥漫性息肉病，而皮肤病变和伴随肿瘤有的已充分发展，有的仅处于雏形，甚至有的不存在。作者建议在胃肠病学文献中提及考登病时引入并始终使用“伴有口周皮肤错构瘤病的弥漫性遗传性胃肠道息肉病”这一术语，该病似乎比文献中先前报道的更为常见。
