Petritsch W, Pristautz H, Schreiber F, Stauber R, Kullnig P, Höfler H, Smolle J
Medizinische Universitätsklinik, Graz.
Z Gastroenterol. 1990 Jul;28(7):358-62.
A patient with multiple hamartoma syndrome or Cowden's disease with multiple gastrointestinal polyps and malignant melanoma is presented. The syndrome is characterized by hamartomatous tumors of the skin, fibrocystic disease of the breasts, gastrointestinal polyps and disease of the thyroid gland such as goiter and adenoma. In addition, other abnormalities and malformations occur in the skeletal system, central nervous system and urogenital tract. Recognition of this syndrome is important because of the association with malignant tumors of the breast and thyroid gland and with malignant melanoma. Gastrointestinal hamartomatous polyps may lead to the diagnosis of Cowden's disease which must be separated from other intestinal polyposis syndromes.
本文报告了一名患有多发性错构瘤综合征（又称考登病）的患者，该患者伴有多发性胃肠道息肉和恶性黑色素瘤。该综合征的特征为皮肤错构瘤性肿瘤、乳腺纤维囊性疾病、胃肠道息肉以及甲状腺疾病，如甲状腺肿和腺瘤。此外，骨骼系统、中枢神经系统和泌尿生殖道还会出现其他异常和畸形。认识到该综合征很重要，因为它与乳腺和甲状腺的恶性肿瘤以及恶性黑色素瘤有关。胃肠道错构瘤性息肉可能有助于考登病的诊断，考登病必须与其他肠道息肉病综合征相区分。
