Sogol P B, Sugawara M, Gordon H E, Shellow W V, Hernandez F, Hershman J M
West J Med. 1983 Sep;139(3):324-8.
Multiple hamartoma syndrome (Cowden's disease) consists of characteristic skin lesions of the face, mucous membranes and distal extremities in association with a variety of benign and malignant internal tumors, especially of the thyroid and breast. We describe a family in which the father, daughter and son were found to have goiter associated with the skin lesions of Cowden's disease. Review of the 40 reported cases of this syndrome indicates that thyroid disease occurs in two thirds of patients with Cowden's disease and most often presents as goiter at an early age. Thyroid cancer has occurred in only three (7.5%) of the patients.Surgical removal of the large goiter of the son showed that it was composed of multiple encapsulated follicular adenomas and a few areas of lymphocytic thyroiditis. Studies of the thyroid tissue showed that peroxidase activity was decreased, the thyroglobulin had a reduced content of thyroxine and triiodothyronine (perhaps due to the therapeutic suppression of thyroid-stimulating hormone) and thyroxine 5'-monodeiodinase was greatly increased; increased outer ring monodeiodinase activity may be a characteristic of human follicular adenomas.
多发性错构瘤综合征（考登病）表现为面部、黏膜及四肢远端的特征性皮肤损害，并伴有多种良性和恶性内脏肿瘤，尤其是甲状腺和乳腺肿瘤。我们报道了一个家族，其中父亲、女儿和儿子均被发现患有与考登病皮肤损害相关的甲状腺肿。对该综合征40例报告病例的回顾表明，三分之二的考登病患者会出现甲状腺疾病，且最常见的表现是早年出现甲状腺肿。仅有3例（7.5%）患者发生了甲状腺癌。对儿子的巨大甲状腺肿进行手术切除后发现，其由多个包膜性滤泡性腺瘤及少数淋巴细胞性甲状腺炎区域组成。对甲状腺组织的研究表明，过氧化物酶活性降低，甲状腺球蛋白中甲状腺素和三碘甲状腺原氨酸含量减少（可能是由于促甲状腺激素的治疗性抑制），而甲状腺素5'-单脱碘酶大幅增加；外环单脱碘酶活性增加可能是人类滤泡性腺瘤的一个特征。
