Schrager C A, Schneider D, Gruener A C, Tsou H C, Peacocke M
Department of Pathology, Tufts University School of Medicine, New England Medical Center, Boston, Massachusetts, USA.
Exp Dermatol. 1998 Dec;7(6):380-90. doi: 10.1111/j.1600-0625.1998.tb00338.x.
Cowden's Syndrome (CS), or multiple hamartoma syndrome, is an autosomal dominant disorder characterized by mucocutaneous lesions, multiple benign tumors of internal organs and an increased risk of breast cancer. Here, we describe and illustrate in detail the benign breast pathology of 59 breast cases from 19 women with CS. Fibrosis is a significant characteristic of the breasts of patients with CS. Fibroadenomas appear to hyalinize at an early age and are frequently complex. The specimens demonstrate a spectrum of dense hyalinization of both the lobule and the stroma, and hyaline nodules appear to be the most characteristic lesion. This hyalinization process shares striking similarities with keloids, as well as the sclerotic nodules seen in the skin of CS individuals. Ductal carcinoma in CS was common, and it appeared to be associated with stromal hyalinization. Other frequently found benign features are adenosis and cysts. Of interest, the features of the benign breast disease in CS show certain similarities with senescent lobules, fibrous mastopathy of diabetes mellitus, and mammary hamartomas. These observations provide a framework for pathologists to identify this underrecognized syndrome.
考登综合征（CS），即多发性错构瘤综合征，是一种常染色体显性疾病，其特征为皮肤黏膜病变、多个内脏器官的良性肿瘤以及乳腺癌风险增加。在此，我们详细描述并展示了19例患有CS的女性的59例乳腺病例的良性乳腺病理学特征。纤维化是CS患者乳腺的一个显著特征。纤维腺瘤在早期似乎就会发生透明变性，且常常是复杂型的。标本显示小叶和间质均有一系列致密的透明变性，透明结节似乎是最具特征性的病变。这种透明变性过程与瘢痕疙瘩以及CS患者皮肤中所见的硬化结节有显著相似之处。CS中的导管癌很常见，且似乎与间质透明变性有关。其他常见的良性特征是腺病和囊肿。有趣的是，CS中良性乳腺疾病的特征与衰老小叶、糖尿病性纤维性乳腺病以及乳腺错构瘤有一定相似之处。这些观察结果为病理学家识别这种未被充分认识的综合征提供了一个框架。
